Variant report

Variant	rs7757496
Chromosome Location	chr6:31780235-31780236
allele	A/C
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	RUNX3	chr6:31780167-31781157	GM12878	blood:	n/a	n/a
2	FOXM1	chr6:31780222-31780779	GM12878	blood:	n/a	n/a
3	MTA3	chr6:31780193-31780823	GM12878	blood:	n/a	n/a
4	NFIC	chr6:31780209-31780835	GM12878	blood:	n/a	n/a
5	FOXM1	chr6:31780215-31780792	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
HSPA1A	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11965547	0.81[ASN][1000 genomes]
rs12529130	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2299851	0.83[ASN][1000 genomes]
rs3749953	0.83[ASN][1000 genomes]
rs4711277	0.98[ASN][1000 genomes]
rs4711279	0.92[ASN][1000 genomes]
rs4713488	0.82[ASN][1000 genomes]
rs480092	0.81[ASN][1000 genomes]
rs4947253	0.87[ASN][1000 genomes]
rs57165260	0.84[ASN][1000 genomes]
rs6905572	0.88[ASN][1000 genomes]
rs6921489	0.90[ASN][1000 genomes]
rs707926	0.81[ASN][1000 genomes]
rs733539	0.92[ASN][1000 genomes]
rs7764451	0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7764682	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9767684	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv601609	chr6:31280101-31799786	Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Enhancers Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
2	nsv601610	chr6:31280101-31960770	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	370 gene(s)	inside rSNPs	diseases
3	nsv601628	chr6:31280327-31990098	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
4	nsv601629	chr6:31280327-31996185	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	376 gene(s)	inside rSNPs	diseases
5	nsv601630	chr6:31280327-32011317	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
6	nsv601631	chr6:31280327-32017540	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	378 gene(s)	inside rSNPs	diseases
7	nsv1023939	chr6:31325961-32026747	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
8	nsv538188	chr6:31325961-32026747	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	372 gene(s)	inside rSNPs	diseases
9	nsv1021747	chr6:31386219-31907266	Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	330 gene(s)	inside rSNPs	diseases
10	nsv1033154	chr6:31550614-32009410	Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	326 gene(s)	inside rSNPs	diseases
11	nsv1017945	chr6:31609641-32481240	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	esv3428142	chr6:31615800-31881809	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
13	nsv884426	chr6:31728102-31800868	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
14	nsv884427	chr6:31728102-31802465	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
15	nsv884428	chr6:31728102-31870326	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv884429	chr6:31730356-31837066	Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
17	nsv884430	chr6:31731881-31800631	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
18	nsv462872	chr6:31778272-31864304	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
19	nsv601945	chr6:31778272-31864304	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
20	nsv981359	chr6:31779004-31797103	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	111 gene(s)	inside rSNPs	diseases
21	nsv869989	chr6:31779203-31797657	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	114 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7757496	HSPA1B	Cis_1M	lymphoblastoid	RTeQTL
rs7757496	DOM3Z	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31774600-31780600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr6:31774600-31781400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr6:31774600-31781600	Weak transcription	Aorta	Aorta
4	chr6:31774800-31780800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr6:31774800-31781000	Weak transcription	Psoas Muscle	Psoas
6	chr6:31774800-31781200	Weak transcription	Spleen	Spleen
7	chr6:31774800-31781400	Weak transcription	Brain Angular Gyrus	brain
8	chr6:31774800-31781400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr6:31774800-31781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr6:31774800-31781800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:31774800-31781800	Weak transcription	Pancreas	Pancrea
12	chr6:31774800-31782600	Weak transcription	Lung	lung
13	chr6:31774800-31783000	Weak transcription	Gastric	stomach
14	chr6:31775000-31780600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr6:31775000-31780600	Weak transcription	HMEC	breast
16	chr6:31775000-31781200	Weak transcription	HSMMtube	muscle
17	chr6:31775000-31781400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:31775000-31781600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr6:31775000-31781600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr6:31775000-31781600	Weak transcription	Colonic Mucosa	Colon
21	chr6:31775000-31781600	Weak transcription	Right Atrium	heart
22	chr6:31775200-31780600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr6:31775200-31781000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:31775200-31781000	Weak transcription	Fetal Muscle Trunk	muscle
25	chr6:31775200-31781000	Weak transcription	Stomach Mucosa	stomach
26	chr6:31775200-31781200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr6:31775200-31781400	Weak transcription	Brain Anterior Caudate	brain
28	chr6:31775200-31781400	Weak transcription	Brain Substantia Nigra	brain
29	chr6:31775200-31781400	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:31775200-31781400	Weak transcription	Fetal Intestine Large	intestine
31	chr6:31775200-31781400	Weak transcription	Fetal Intestine Small	intestine
32	chr6:31775200-31781400	Weak transcription	Fetal Kidney	kidney
33	chr6:31775200-31781400	Weak transcription	Rectal Smooth Muscle	rectum
34	chr6:31775200-31781600	Weak transcription	Fetal Lung	lung
35	chr6:31775400-31780400	Weak transcription	Primary B cells from cord blood	blood
36	chr6:31775400-31780600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:31775400-31780800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:31775400-31781000	Weak transcription	Fetal Thymus	thymus
39	chr6:31775400-31781200	Weak transcription	Adipose Nuclei	Adipose
40	chr6:31775400-31781200	Weak transcription	Fetal Brain Male	brain
41	chr6:31775600-31780800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:31775600-31781200	Weak transcription	Fetal Muscle Leg	muscle
43	chr6:31775600-31781800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:31775800-31781400	Weak transcription	Brain Germinal Matrix	brain
45	chr6:31775800-31781600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr6:31776000-31780400	Weak transcription	K562	blood
47	chr6:31777200-31781400	Weak transcription	Liver	Liver
48	chr6:31777600-31781200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr6:31777600-31781400	Weak transcription	HepG2	liver
50	chr6:31777800-31781400	Weak transcription	HUES6 Cell Line	embryonic stem cell

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