Variant report

Variant	rs7523082
Chromosome Location	chr1:151848126-151848127
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151831860..151834809-chr1:151847817..151849613,2	MCF-7	breast:
2	chr1:151847463..151849463-chr1:151858810..151860605,2	MCF-7	breast:
3	chr1:151832963..151834961-chr1:151847384..151848960,2	K562	blood:
4	chr1:151836666..151838298-chr1:151846377..151848819,2	MCF-7	breast:
5	chr1:151842414..151844891-chr1:151846199..151848335,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1060870	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10788817	0.96[CEU][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10788818	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10788820	0.87[CEU][hapmap];0.83[AMR][1000 genomes]
rs10888445	0.88[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11204914	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11204915	0.95[CEU][hapmap];0.81[CHB][hapmap];0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12067594	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12562586	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12727170	0.80[CHB][hapmap]
rs13320	0.95[CEU][hapmap];1.00[CHB][hapmap];0.80[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1387833	0.81[CEU][hapmap]
rs2130525	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2338201	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2932579	0.83[CEU][hapmap]
rs2999541	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2999542	0.81[CHB][hapmap]
rs2999544	0.83[CEU][hapmap];0.81[CHB][hapmap]
rs2999545	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs3007670	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3007685	0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3007711	0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4845409	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4845713	0.95[CEU][hapmap];0.84[CHB][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6684312	0.95[CHB][hapmap]
rs6685187	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6698740	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7541453	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7542137	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9943281	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]

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	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs7523082	THEM4	cis	Nerve Tibial	GTEx
rs7523082	S100A10	cis	Lymphoblastoid	GTEx
rs7523082	THEM4	cis	uninvolved skin	skin_eQTL
rs7523082	THEM4	Cis_1M	lymphoblastoid	RTeQTL
rs7523082	S100A10	Cis_1M	lymphoblastoid	RTeQTL
rs7523082	S100A10	cis	multi-tissue	Pritchard
rs7523082	THEM4	cis	multi-tissue	Pritchard
rs7523082	THEM4	cis	Esophagus Muscularis	GTEx

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151831000-151881400	Weak transcription	Ovary	ovary
2	chr1:151832000-151859600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:151834000-151849600	Weak transcription	Esophagus	oesophagus
4	chr1:151840600-151864600	Weak transcription	NH-A	brain
5	chr1:151840800-151857800	Weak transcription	K562	blood
6	chr1:151841200-151859200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr1:151841200-151880800	Weak transcription	NHLF	lung
8	chr1:151841400-151860000	Weak transcription	Hela-S3	cervix
9	chr1:151841400-151860200	Weak transcription	Osteobl	bone
10	chr1:151841600-151864000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr1:151843400-151859600	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:151844000-151860000	Weak transcription	HSMM	muscle
13	chr1:151844000-151864600	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:151844200-151859600	Weak transcription	Brain Angular Gyrus	brain
15	chr1:151844200-151860400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:151844400-151849600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:151844400-151857800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr1:151844400-151866400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
20	chr1:151844600-151851600	Weak transcription	Fetal Brain Male	brain
21	chr1:151844600-151853800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr1:151844600-151863600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:151844600-151864200	Weak transcription	Rectal Smooth Muscle	rectum
24	chr1:151844800-151848800	Weak transcription	HepG2	liver
25	chr1:151844800-151849600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr1:151844800-151853800	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:151844800-151857800	Weak transcription	HMEC	breast
28	chr1:151844800-151863800	Weak transcription	Brain Substantia Nigra	brain
29	chr1:151844800-151864200	Weak transcription	Pancreas	Pancrea
30	chr1:151844800-151870800	Weak transcription	Gastric	stomach
31	chr1:151844800-151871200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:151844800-151877600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:151845200-151863600	Weak transcription	Fetal Kidney	kidney
34	chr1:151845400-151871200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:151845600-151851600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr1:151845800-151851200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:151845800-151859200	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:151846000-151849000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:151846000-151861800	Weak transcription	Psoas Muscle	Psoas
40	chr1:151846000-151864200	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:151846200-151851200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:151846200-151858000	Weak transcription	A549	lung
43	chr1:151846400-151855400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:151846400-151859600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr1:151846400-151860000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr1:151846400-151860200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:151846400-151865400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr1:151846400-151870400	Weak transcription	Right Ventricle	heart
49	chr1:151846400-151871600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr1:151846600-151851000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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