Variant report

Variant	rs7290848
Chromosome Location	chr22:30231447-30231448
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
2	chr22:30161269..30163676-chr22:30230353..30231980,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100319	Chromatin interaction
ENSG00000184076	Chromatin interaction
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10222284	1.00[AMR][1000 genomes]
rs11090582	1.00[EUR][1000 genomes]
rs12166580	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12167519	1.00[AMR][1000 genomes]
rs12169015	1.00[AMR][1000 genomes]
rs12169042	1.00[AMR][1000 genomes]
rs16988011	1.00[EUR][1000 genomes]
rs16988043	1.00[EUR][1000 genomes]
rs16988044	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16988062	1.00[EUR][1000 genomes]
rs41479445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56783715	1.00[EUR][1000 genomes]
rs58113244	1.00[EUR][1000 genomes]
rs58538392	1.00[EUR][1000 genomes]
rs58643523	1.00[EUR][1000 genomes]
rs59172206	1.00[EUR][1000 genomes]
rs59237579	1.00[EUR][1000 genomes]
rs59422664	1.00[EUR][1000 genomes]
rs59542747	1.00[EUR][1000 genomes]
rs60020246	1.00[EUR][1000 genomes]
rs60965931	1.00[EUR][1000 genomes]
rs61432554	1.00[EUR][1000 genomes]
rs7286724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73394816	1.00[EUR][1000 genomes]
rs73394842	1.00[EUR][1000 genomes]
rs73400621	1.00[EUR][1000 genomes]
rs9620930	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9620939	1.00[EUR][1000 genomes]
rs9625869	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625890	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9625903	1.00[EUR][1000 genomes]
rs9625907	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer 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 target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active 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 target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
3	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
4	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr22:30203600-30233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr22:30208800-30233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:30209800-30233600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr22:30215200-30233200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr22:30218200-30232200	Strong transcription	Fetal Intestine Small	intestine
10	chr22:30218400-30233000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr22:30218600-30233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:30219000-30232000	Weak transcription	Fetal Brain Male	brain
13	chr22:30219600-30233400	Weak transcription	Fetal Kidney	kidney
14	chr22:30220000-30231600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:30221400-30233400	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr22:30221600-30233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr22:30221800-30233400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr22:30221800-30233600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr22:30222000-30232800	Weak transcription	Hela-S3	cervix
20	chr22:30222000-30233600	Weak transcription	Small Intestine	intestine
21	chr22:30223000-30231600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr22:30223000-30232200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr22:30223000-30232200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr22:30223000-30232200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr22:30223400-30231600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr22:30224200-30233200	Weak transcription	Right Atrium	heart
27	chr22:30224400-30232000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr22:30224400-30232000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr22:30224800-30233000	Weak transcription	Pancreas	Pancrea
30	chr22:30225000-30232200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr22:30225800-30232000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:30226800-30232000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr22:30226800-30232000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr22:30227200-30232800	Weak transcription	A549	lung
35	chr22:30227600-30233400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:30228000-30232200	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr22:30228000-30233400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:30228000-30233400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr22:30228200-30231600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr22:30228200-30231600	Weak transcription	HUVEC	blood vessel
41	chr22:30228200-30232000	Weak transcription	HMEC	breast
42	chr22:30228200-30233000	Weak transcription	Gastric	stomach
43	chr22:30228400-30232600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:30228400-30232800	Weak transcription	Psoas Muscle	Psoas
45	chr22:30228400-30233000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr22:30228400-30233000	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr22:30228400-30233400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:30228400-30233400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr22:30229000-30233600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr22:30229400-30232200	Strong transcription	Sigmoid Colon	Sigmoid Colon

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