Variant report

Variant	rs7037860
Chromosome Location	chr9:26958439-26958440
allele	C/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	chr9:26958344-26958445	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr9:26957364-26958569	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:26885787..26888366-chr9:26956613..26958846,2	MCF-7	breast:
2	chr9:26955666..26957510-chr9:26957953..26960987,3	MCF-7	breast:
3	chr9:26951108..26953952-chr9:26958227..26960200,3	K562	blood:
4	chr9:26956517..26958466-chr9:26969685..26972625,2	MCF-7	breast:
5	chr9:26889862..26894629-chr9:26953159..26958871,9	K562	blood:

Variant related genes	Relation type
ENSG00000234676	TF binding region
ENSG00000096872	Chromatin interaction
ENSG00000234676	Chromatin interaction
ENSG00000120159	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:95)

rs_ID	r²[population]
rs10283643	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1048949	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10511793	1.00[CHB][hapmap]
rs10812492	1.00[CHB][hapmap]
rs10812500	1.00[CHB][hapmap]
rs10967593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[TSI][hapmap]
rs10967594	1.00[CHB][hapmap]
rs10967595	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10967624	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967625	1.00[CHB][hapmap]
rs10967634	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10967638	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10967644	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1161603	1.00[CHB][hapmap]
rs11788136	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11999015	0.94[ASN][1000 genomes]
rs12001845	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12002068	0.94[ASN][1000 genomes]
rs12003612	1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs12005388	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12337860	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12338678	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12338827	0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12339063	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12339162	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12340500	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12342005	1.00[CHB][hapmap]
rs12343345	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12345094	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12349359	1.00[CHB][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12352441	1.00[CHB][hapmap]
rs12352603	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12352631	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12554485	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13293051	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16910832	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16910834	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16910888	1.00[CHB][hapmap]
rs16910895	1.00[CHB][hapmap]
rs16911083	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17694121	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs17694140	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694300	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694306	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17694549	1.00[CHB][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17694796	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17755887	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17755911	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17756221	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17756599	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17756667	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17756685	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2027124	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2152063	1.00[CHB][hapmap]
rs28525632	0.86[EUR][1000 genomes]
rs2991949	1.00[CHB][hapmap]
rs3429	1.00[CHB][hapmap]
rs41271173	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs41272237	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41272239	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55902149	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59478807	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs596427	1.00[CHB][hapmap]
rs59757728	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61331313	0.94[ASN][1000 genomes]
rs615532	1.00[CHB][hapmap]
rs6475948	1.00[CHB][hapmap]
rs6475959	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6475963	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6475966	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6475968	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7039400	1.00[CHB][hapmap]
rs7040516	1.00[CHB][hapmap]
rs7040772	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7042003	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7042119	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7044842	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs73433963	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73643117	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643119	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643120	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73643125	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73643126	0.89[AFR][1000 genomes]
rs73643128	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7847280	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7854048	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7865596	1.00[YRI][hapmap]
rs7871097	1.00[CHB][hapmap]
rs7871178	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7871286	1.00[CHB][hapmap]
rs7873019	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7873161	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7873329	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv517269	chr9:26945976-27137242	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv892862	chr9:26956663-27190655	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26957000-26961800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:26957000-26973800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:26957000-26980800	Weak transcription	Lung	lung
4	chr9:26957000-26983200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:26957000-26984400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr9:26957000-27024000	Weak transcription	Esophagus	oesophagus
7	chr9:26957200-26958600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr9:26957200-26961400	Weak transcription	Brain Substantia Nigra	brain
9	chr9:26957200-26961600	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:26957200-26961800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:26957200-26961800	Weak transcription	HSMM	muscle
12	chr9:26957200-26962000	Weak transcription	Primary hematopoietic stem cells	blood
13	chr9:26957200-26962200	Weak transcription	Thymus	Thymus
14	chr9:26957200-26976000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr9:26957200-26980800	Weak transcription	Fetal Intestine Large	intestine
16	chr9:26957200-26980800	Weak transcription	Fetal Stomach	stomach
17	chr9:26957200-26982600	Weak transcription	Fetal Muscle Leg	muscle
18	chr9:26957200-26982600	Weak transcription	Left Ventricle	heart
19	chr9:26957200-26983200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr9:26957200-26983200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr9:26957200-26984400	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr9:26957200-26984400	Weak transcription	Primary B cells from peripheral blood	blood
23	chr9:26957200-26984600	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:26957200-26984800	Weak transcription	Primary B cells from cord blood	blood
25	chr9:26957200-26984800	Weak transcription	Fetal Thymus	thymus
26	chr9:26957200-27026600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr9:26957200-27040000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr9:26957400-26961800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:26957400-26962000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr9:26957400-26962000	Weak transcription	Liver	Liver
31	chr9:26957400-26962200	Weak transcription	Fetal Lung	lung
32	chr9:26957400-26963800	Weak transcription	NHLF	lung
33	chr9:26957400-26964800	Weak transcription	Primary T cells from cord blood	blood
34	chr9:26957400-26974800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr9:26957400-26978200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr9:26957400-26980800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr9:26957400-26982800	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:26957400-26983200	Weak transcription	Brain Anterior Caudate	brain
39	chr9:26957400-26983400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr9:26957400-26984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr9:26957600-26959400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:26957600-26959400	Weak transcription	HMEC	breast
43	chr9:26957600-26959600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr9:26957600-26959600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr9:26957600-26959600	Weak transcription	NHDF-Ad	bronchial
46	chr9:26957600-26961400	Weak transcription	GM12878-XiMat	blood
47	chr9:26957600-26961600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr9:26957600-26961800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr9:26957600-26962000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr9:26957600-26965800	Weak transcription	Fetal Brain Female	brain

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