Variant report

Variant	rs174684
Chromosome Location	chr22:19936025-19936026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUN	chr22:19934597-19936145	K562	blood:	n/a	n/a
2	CTCF	chr22:19935880-19936030	WI-38	lung:	n/a	n/a
3	STAT5A	chr22:19934933-19936272	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:19933948..19936893-chr22:19937574..19940481,3	MCF-7	breast:
2	chr22:19928283..19930112-chr22:19933722..19937273,3	MCF-7	breast:
3	chr22:19928693..19931390-chr22:19934756..19936979,3	MCF-7	breast:

Variant related genes	Relation type
COMT	TF binding region
ENSG00000184470	Chromatin interaction
ENSG00000093010	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10483103	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12483995	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs165879	0.98[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17210001	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs174673	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs174683	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174685	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174686	0.91[AMR][1000 genomes]
rs174687	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs174689	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2871046	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2871047	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	nsv588238	chr22:19898886-19937638	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	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
19	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
20	nsv914307	chr22:19924021-19952132	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
21	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
22	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
23	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
24	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

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:19930800-19936800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr22:19930800-19946400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr22:19931400-19936800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr22:19931400-19940600	Weak transcription	Esophagus	oesophagus
5	chr22:19931400-19940600	Weak transcription	Gastric	stomach
6	chr22:19931400-19946400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr22:19931400-19946400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr22:19931400-19954200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr22:19931400-19955200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr22:19931600-19936600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:19931600-19936600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:19931600-19938000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:19931600-19946400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:19931600-19946400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr22:19931600-19946600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr22:19931600-19947200	Weak transcription	Primary T cells from cord blood	blood
17	chr22:19931800-19936600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:19931800-19938000	Weak transcription	Lung	lung
19	chr22:19931800-19946400	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr22:19931800-19956800	Weak transcription	Small Intestine	intestine
21	chr22:19932600-19938200	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr22:19932800-19946200	Weak transcription	Aorta	Aorta
23	chr22:19933600-19937800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr22:19934000-19937200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:19934200-19936600	Enhancers	HUVEC	blood vessel
26	chr22:19934200-19943400	Strong transcription	Dnd41	blood
27	chr22:19934600-19937400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr22:19934800-19936200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr22:19935000-19936200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr22:19935000-19936800	Genic enhancers	NHEK	skin
31	chr22:19935000-19936800	Genic enhancers	NHLF	lung
32	chr22:19935000-19937600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr22:19935000-19937600	Enhancers	NH-A	brain
34	chr22:19935200-19936200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr22:19935400-19936200	Weak transcription	Fetal Brain Male	brain
36	chr22:19935400-19936200	Strong transcription	Fetal Intestine Small	intestine
37	chr22:19935400-19936400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr22:19935400-19936400	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr22:19935400-19936600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr22:19935400-19936600	Weak transcription	Fetal Intestine Large	intestine
41	chr22:19935400-19936600	Weak transcription	HSMM	muscle
42	chr22:19935400-19936600	Weak transcription	NHDF-Ad	bronchial
43	chr22:19935400-19936800	Genic enhancers	K562	blood
44	chr22:19935400-19937000	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr22:19935400-19937000	Strong transcription	Fetal Muscle Trunk	muscle
46	chr22:19935400-19937000	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:19935400-19937400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:19935400-19937400	Enhancers	HepG2	liver
49	chr22:19935400-19937600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr22:19935400-19937600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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