Variant report

Variant	rs9306234
Chromosome Location	chr22:19953188-19953189
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:19949168..19953639-chr22:20103294..20106027,5	MCF-7	breast:
2	chr22:19952972..19955333-chr22:20231471..20233806,2	K562	blood:
3	chr22:19951752..19953768-chr22:19965167..19968722,3	MCF-7	breast:
4	chr22:19951450..19953196-chr22:20114793..20116954,2	MCF-7	breast:
5	chr22:19936518..19938367-chr22:19953135..19955289,2	MCF-7	breast:
6	chr22:19952344..19955333-chr22:20231471..20234892,3	K562	blood:
7	chr22:19951061..19955042-chr22:19971204..19974681,3	MCF-7	breast:
8	chr22:19952819..19956251-chr22:20007174..20010018,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000099899	Chromatin interaction
ENSG00000183597	Chromatin interaction
ENSG00000099901	Chromatin interaction
ENSG00000099889	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2239393	0.80[EUR][1000 genomes]
rs3810595	0.80[EUR][1000 genomes]
rs4646317	0.88[EUR][1000 genomes]
rs4818	0.82[AMR][1000 genomes]
rs6269	0.80[EUR][1000 genomes]
rs740601	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792516	chr22:19578312-20314496	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
2	nsv914279	chr22:19638044-19954458	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv1818018	chr22:19674772-20313261	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv828938	chr22:19678592-20311988	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
5	nsv828939	chr22:19683555-20311988	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
6	nsv1064992	chr22:19691720-20246906	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
7	esv1826873	chr22:19726464-20313261	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	nsv588237	chr22:19749525-20306993	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
9	nsv1065963	chr22:19779317-20027562	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
10	nsv544580	chr22:19779317-20027562	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
11	nsv949462	chr22:19840196-20214783	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
12	nsv1065367	chr22:19856610-20127323	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
13	nsv469641	chr22:19879185-20055258	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
14	nsv482484	chr22:19879185-20055258	Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
15	nsv834131	chr22:19879186-20055258	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
16	nsv834132	chr22:19887966-20069970	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
17	nsv914306	chr22:19900075-19983014	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	nsv588239	chr22:19907099-20309393	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
19	nsv914308	chr22:19924021-19977647	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
20	nsv914309	chr22:19934051-19970502	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
21	nsv914310	chr22:19934051-20021938	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
22	nsv914311	chr22:19934051-20029878	Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
23	nsv914312	chr22:19937638-19970502	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
24	nsv914313	chr22:19937638-19983014	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
25	nsv914314	chr22:19937638-19987202	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
26	nsv914315	chr22:19937638-19989642	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
27	nsv914316	chr22:19937638-19990789	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
28	nsv914317	chr22:19937638-20032327	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
29	esv3584493	chr22:19941927-19978558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
30	nsv1064496	chr22:19948337-19978558	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
31	nsv1055752	chr22:19948337-20001022	Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
32	nsv1063584	chr22:19948881-20232189	Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
33	nsv914318	chr22:19949013-19983014	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
34	nsv517165	chr22:19950428-19987202	Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
35	nsv914319	chr22:19952132-19983014	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
36	nsv914320	chr22:19952561-19989642	Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
37	nsv914321	chr22:19952561-20010730	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:19931400-19954200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:19931400-19955200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr22:19931800-19956800	Weak transcription	Small Intestine	intestine
4	chr22:19945000-19958400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:19947800-19956000	Weak transcription	Primary B cells from cord blood	blood
6	chr22:19948000-19954400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr22:19948200-19954200	Strong transcription	Spleen	Spleen
8	chr22:19948200-19957800	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr22:19948200-19958200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:19948200-19959000	Strong transcription	Dnd41	blood
11	chr22:19948400-19953400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr22:19948400-19957200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr22:19948400-19967800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr22:19948800-19957600	Weak transcription	Right Atrium	heart
15	chr22:19949400-19957800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr22:19949600-19954400	Genic enhancers	Brain Germinal Matrix	brain
17	chr22:19949600-19962000	Weak transcription	GM12878-XiMat	blood
18	chr22:19950200-19958200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr22:19950400-19958000	Strong transcription	Adipose Nuclei	Adipose
20	chr22:19950400-19958200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr22:19950400-19958200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr22:19950400-19958600	Strong transcription	Thymus	Thymus
23	chr22:19950600-19953800	Weak transcription	HSMM	muscle
24	chr22:19950600-19954400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:19950600-19956000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr22:19950600-19957200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr22:19950600-19958000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:19950600-19958200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr22:19950600-19958200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr22:19950600-19958600	Weak transcription	Fetal Heart	heart
31	chr22:19950600-19961600	Strong transcription	NHLF	lung
32	chr22:19950600-19961800	Weak transcription	Hela-S3	cervix
33	chr22:19950800-19953200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:19950800-19953400	Strong transcription	K562	blood
35	chr22:19950800-19954400	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr22:19950800-19954600	Strong transcription	Fetal Lung	lung
37	chr22:19950800-19956800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:19950800-19957800	Strong transcription	Fetal Thymus	thymus
39	chr22:19950800-19958200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr22:19950800-19962400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr22:19951000-19953400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:19951200-19953800	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr22:19951200-19955800	Strong transcription	Osteobl	bone
44	chr22:19951200-19956000	Strong transcription	Colon Smooth Muscle	Colon
45	chr22:19951200-19956600	Strong transcription	Primary hematopoietic stem cells	blood
46	chr22:19951200-19956800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:19951200-19957800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr22:19951200-19958000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr22:19951200-19958400	Strong transcription	Lung	lung
50	chr22:19951200-19961800	Strong transcription	Fetal Stomach	stomach

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