Variant report

Variant	rs6691025
Chromosome Location	chr1:113177070-113177071
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113175098..113177937-chr1:113216084..113219096,3	K562	blood:
2	chr1:113174287..113177225-chr1:113195135..113197615,2	K562	blood:
3	chr1:113166891..113170892-chr1:113175321..113178466,4	MCF-7	breast:
4	chr1:113175596..113177219-chr1:113246984..113249393,2	K562	blood:
5	chr1:113175570..113177096-chr1:113247436..113249393,2	K562	blood:
6	chr1:113160723..113165186-chr1:113170921..113177730,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155363	Chromatin interaction
ENSG00000116489	Chromatin interaction
ENSG00000235299	Chromatin interaction
ENSG00000238975	Chromatin interaction
ENSG00000007341	Chromatin interaction
ENSG00000155366	Chromatin interaction

Extended variants
information (count: 92 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs10745332	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10857969	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11102494	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11102508	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11102510	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11102517	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12048528	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12118370	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12119489	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12125361	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12126494	0.85[EUR][1000 genomes]
rs12136781	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12137107	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12138335	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12143068	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1238	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12401734	0.83[EUR][1000 genomes]
rs12402469	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12402929	0.83[EUR][1000 genomes]
rs12406906	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12739994	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12750023	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12750621	0.86[EUR][1000 genomes]
rs12758377	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17438324	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2273369	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2932529	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2932534	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932535	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2932538	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2932539	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3013433	0.82[EUR][1000 genomes]
rs3013441	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34531155	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35482634	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36029940	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs3762335	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3790611	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3790612	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3795820	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4240534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838960	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4838961	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4839257	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61818772	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs61818800	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537740	0.84[EUR][1000 genomes]
rs6537744	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6537745	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6537746	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6537747	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658555	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6659677	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6661642	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6663922	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6668533	0.81[EUR][1000 genomes]
rs6671645	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6672761	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6673930	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6674053	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6674068	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6681371	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6682678	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6690169	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6690292	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6691917	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6693880	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6696991	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6698030	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6701351	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7415988	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7512984	0.80[EUR][1000 genomes]
rs7516421	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7519368	0.90[EUR][1000 genomes]
rs7522110	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7527076	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7535636	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7537789	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7542820	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7546203	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7549547	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7551933	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7552692	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs9429694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9662162	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs999923	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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 miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv432631	chr1:113071834-113200797	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
5	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
6	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6691025	ST7L	cis	lung	GTEx
rs6691025	CAPZA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113163600-113180600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:113163600-113200000	Weak transcription	Fetal Kidney	kidney
3	chr1:113163800-113200200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:113163800-113200800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr1:113164000-113190000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr1:113164200-113180000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:113164200-113204200	Weak transcription	Fetal Brain Male	brain
8	chr1:113164800-113179200	Weak transcription	Colonic Mucosa	Colon
9	chr1:113168000-113180000	Weak transcription	Aorta	Aorta
10	chr1:113168600-113177800	Weak transcription	Fetal Intestine Large	intestine
11	chr1:113168600-113179200	Weak transcription	NH-A	brain
12	chr1:113168800-113177600	Weak transcription	Stomach Mucosa	stomach
13	chr1:113168800-113177800	Weak transcription	NHLF	lung
14	chr1:113168800-113178200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:113168800-113179200	Weak transcription	Brain Angular Gyrus	brain
16	chr1:113168800-113179200	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:113168800-113179200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:113168800-113179400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:113168800-113180000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:113168800-113180000	Weak transcription	Lung	lung
21	chr1:113168800-113187200	Weak transcription	Stomach Smooth Muscle	stomach
22	chr1:113168800-113189800	Weak transcription	Fetal Lung	lung
23	chr1:113168800-113191000	Weak transcription	Ovary	ovary
24	chr1:113168800-113199800	Weak transcription	Esophagus	oesophagus
25	chr1:113168800-113215800	Weak transcription	Fetal Heart	heart
26	chr1:113169000-113181600	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr1:113169000-113186400	Weak transcription	Fetal Muscle Trunk	muscle
28	chr1:113169000-113189800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:113169200-113188400	Weak transcription	Left Ventricle	heart
30	chr1:113169800-113178600	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr1:113169800-113188800	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:113170000-113179200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:113171800-113179200	Weak transcription	Small Intestine	intestine
34	chr1:113171800-113179400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:113172200-113177800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:113172200-113180000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:113172200-113181000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr1:113172400-113178800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:113172400-113179200	Weak transcription	Brain Substantia Nigra	brain
40	chr1:113172600-113178600	Weak transcription	Brain Hippocampus Middle	brain
41	chr1:113172600-113179200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr1:113172600-113179200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr1:113172600-113191400	Weak transcription	Brain Germinal Matrix	brain
44	chr1:113172800-113178000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr1:113173400-113177600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:113173400-113178000	Weak transcription	HMEC	breast
47	chr1:113173400-113186600	Weak transcription	Thymus	Thymus
48	chr1:113173400-113186800	Weak transcription	Fetal Stomach	stomach
49	chr1:113173600-113177800	Weak transcription	Fetal Intestine Small	intestine
50	chr1:113173600-113179400	Enhancers	Primary T killer memory cells from peripheral blood	blood

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