Variant report

Variant	rs2387
Chromosome Location	chr22:31977874-31977875
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	POLR2A	chr22:31977866-31977975	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:31975899..31977942-chr22:32024771..32027892,3	MCF-7	breast:
2	22:31976153-31978142..22:32162110-32166713	Hela-S3	cervix:

Variant related genes	Relation type
SFI1	TF binding region
ENSG00000241878	Chromatin interaction
ENSG00000100150	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1044085	0.81[JPT][hapmap]
rs10775716	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11089512	0.86[JPT][hapmap]
rs12170867	1.00[JPT][hapmap]
rs12171042	1.00[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs12627933	0.91[CHB][hapmap];0.88[EUR][1000 genomes]
rs14034	0.80[ASN][1000 genomes]
rs1543416	0.81[JPT][hapmap]
rs2024747	0.95[JPT][hapmap]
rs2092905	0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2236033	1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2281440	0.83[ASN][1000 genomes]
rs2295242	0.96[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2295251	1.00[CHB][hapmap];0.85[JPT][hapmap];0.86[ASN][1000 genomes]
rs3818134	0.95[JPT][hapmap]
rs4820051	0.88[CHB][hapmap];0.91[JPT][hapmap];0.92[ASN][1000 genomes]
rs4820979	0.95[JPT][hapmap]
rs4820980	0.95[JPT][hapmap]
rs4820983	0.81[JPT][hapmap]
rs5749293	0.95[JPT][hapmap]
rs5749303	1.00[JPT][hapmap]
rs5749304	0.91[JPT][hapmap]
rs5749306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5753667	0.95[JPT][hapmap]
rs5753681	0.95[JPT][hapmap]
rs5753686	0.81[JPT][hapmap]
rs5753687	0.89[EUR][1000 genomes]
rs5753691	0.85[JPT][hapmap]
rs5753713	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753714	1.00[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5753715	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753716	0.86[ASN][1000 genomes]
rs5753732	0.82[ASN][1000 genomes]
rs5753734	0.95[CHB][hapmap];0.86[JPT][hapmap]
rs5994415	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs5998042	0.86[JPT][hapmap]
rs5998054	1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs7289075	1.00[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs7291918	1.00[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs738656	0.95[JPT][hapmap]
rs738684	1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs738702	0.83[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs761746	1.00[CHB][hapmap];0.86[JPT][hapmap]
rs761747	0.86[ASN][1000 genomes]
rs8461	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs9621291	0.87[ASN][1000 genomes]
rs9956	0.87[CHB][hapmap];0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914979	chr22:31964043-31990184	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv914980	chr22:31966274-32024980	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv979746	chr22:31976201-31982901	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	nsv517534	chr22:31977594-32024980	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31927400-31979400	Weak transcription	NHDF-Ad	bronchial
2	chr22:31927400-31980000	Weak transcription	HSMMtube	muscle
3	chr22:31929800-31985600	Weak transcription	Fetal Kidney	kidney
4	chr22:31933600-31979600	Weak transcription	HUVEC	blood vessel
5	chr22:31934000-31981000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr22:31935200-31985400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31935800-32013200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr22:31941400-31981400	Weak transcription	NHEK	skin
9	chr22:31947800-32009600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr22:31948200-31980000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr22:31949200-31981600	Weak transcription	Left Ventricle	heart
12	chr22:31949400-32014400	Weak transcription	Hela-S3	cervix
13	chr22:31954400-31980000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr22:31957400-32016400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:31957800-31979600	Weak transcription	K562	blood
16	chr22:31958000-31983000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr22:31964400-31979800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr22:31964600-31993600	Weak transcription	Psoas Muscle	Psoas
19	chr22:31967000-31985400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:31967200-31981000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr22:31968800-31986200	Strong transcription	Fetal Thymus	thymus
22	chr22:31968800-32003800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:31970600-31980000	Weak transcription	Fetal Lung	lung
24	chr22:31970600-31980600	Weak transcription	Brain Angular Gyrus	brain
25	chr22:31970600-31980800	Weak transcription	Colon Smooth Muscle	Colon
26	chr22:31970600-31981400	Weak transcription	Pancreas	Pancrea
27	chr22:31970800-31979400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr22:31970800-31979800	Weak transcription	Osteobl	bone
29	chr22:31971400-31982000	Weak transcription	Gastric	stomach
30	chr22:31971600-31981200	Weak transcription	HMEC	breast
31	chr22:31971800-31979800	Weak transcription	NH-A	brain
32	chr22:31971800-31982000	Weak transcription	Brain Substantia Nigra	brain
33	chr22:31972000-31978600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:31972000-31979600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr22:31972000-31979800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr22:31972000-31979800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr22:31972000-31980000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr22:31972000-31981200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr22:31972000-31981600	Weak transcription	Brain Hippocampus Middle	brain
40	chr22:31972000-31982600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr22:31972200-31979600	Weak transcription	NHLF	lung
42	chr22:31973600-31979600	Weak transcription	HSMM	muscle
43	chr22:31973800-31979600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr22:31973800-31980600	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr22:31973800-31981200	Weak transcription	Fetal Muscle Leg	muscle
46	chr22:31974400-31998200	Weak transcription	Small Intestine	intestine
47	chr22:31974600-31978400	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr22:31974600-31979600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr22:31974600-31979600	Weak transcription	Placenta	Placenta
50	chr22:31974600-31979800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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