Variant report

Variant	rs3115673
Chromosome Location	chr6:31810085-31810086
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:31800755..31815108-chr6:31823340..31833266,54	K562	blood:
2	chr6:31800806..31810142-chr6:31827604..31833040,24	MCF-7	breast:
3	chr6:31810060..31812740-chr6:32077542..32080082,2	K562	blood:
4	chr6:31808421..31810311-chr6:31817022..31818530,2	MCF-7	breast:
5	chr1:154830014..154831577-chr6:31809567..31811071,2	K562	blood:
6	chr6:31801090..31813654-chr6:31824519..31834411,41	MCF-7	breast:
7	chr6:31800580..31812447-chr6:31823435..31837480,47	K562	blood:

Variant related genes	Relation type
ENSG00000204385	Chromatin interaction
ENSG00000204386	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2395079	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4711279	0.81[EUR][1000 genomes]
rs480092	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs565599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs613165	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs644452	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6921489	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs707926	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs733539	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs743399	0.91[ASN][1000 genomes]
rs9767684	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	nsv601950	chr6:31785438-32492308	Enhancers Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
17	nsv601951	chr6:31785438-32496748	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' 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	197 gene(s)	inside rSNPs	diseases
18	nsv884461	chr6:31785453-31827045	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
19	nsv601955	chr6:31785453-32484368	Genic enhancers Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
20	nsv601956	chr6:31785453-32492308	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	197 gene(s)	inside rSNPs	diseases
21	nsv462874	chr6:31794592-31864304	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
22	nsv601959	chr6:31794592-31864304	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
23	nsv884463	chr6:31797422-31827045	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
24	nsv884464	chr6:31805389-31817114	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
25	nsv884465	chr6:31805389-31818580	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	Chromatin interactive region	24 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs3115673	HSPA1B	cis	lymphoblastoid	seeQTL
rs3115673	DOM3Z	Cis_1M	lymphoblastoid	RTeQTL
rs3115673	HSPA1B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31803000-31817200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:31805800-31810800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr6:31805800-31811000	Strong transcription	Fetal Stomach	stomach
4	chr6:31806000-31810200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:31806000-31810800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr6:31806200-31810200	Strong transcription	Fetal Brain Female	brain
7	chr6:31806400-31810200	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr6:31806400-31811000	Strong transcription	Stomach Smooth Muscle	stomach
9	chr6:31807000-31810200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:31807000-31810200	Strong transcription	Fetal Thymus	thymus
11	chr6:31807000-31813800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr6:31807000-31829200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr6:31807200-31810200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr6:31807200-31810200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr6:31807200-31810200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr6:31807200-31811000	Strong transcription	Fetal Intestine Small	intestine
17	chr6:31807200-31813600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr6:31807400-31810200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr6:31807400-31810200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:31807400-31810600	Weak transcription	Stomach Mucosa	stomach
21	chr6:31807400-31815000	Weak transcription	Hela-S3	cervix
22	chr6:31807400-31824800	Weak transcription	Brain Angular Gyrus	brain
23	chr6:31807400-31829400	Weak transcription	Fetal Brain Male	brain
24	chr6:31807400-31829600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr6:31807800-31812400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr6:31807800-31825000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr6:31807800-31826600	Weak transcription	Right Ventricle	heart
28	chr6:31807800-31827800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr6:31808000-31810400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:31808000-31812400	Strong transcription	Thymus	Thymus
31	chr6:31808000-31826600	Weak transcription	Fetal Kidney	kidney
32	chr6:31808000-31827000	Weak transcription	Small Intestine	intestine
33	chr6:31808000-31829400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:31808000-31829400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr6:31808000-31829800	Weak transcription	Psoas Muscle	Psoas
36	chr6:31808200-31812000	Weak transcription	Pancreas	Pancrea
37	chr6:31808200-31813800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:31808200-31826800	Weak transcription	NHDF-Ad	bronchial
39	chr6:31808600-31819000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:31808600-31823000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr6:31808600-31825000	Weak transcription	Brain Anterior Caudate	brain
42	chr6:31808600-31825000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr6:31808600-31825200	Weak transcription	Aorta	Aorta
44	chr6:31808600-31826600	Weak transcription	Dnd41	blood
45	chr6:31808600-31827000	Weak transcription	NHEK	skin
46	chr6:31808600-31827600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr6:31808800-31810600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:31808800-31811400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr6:31808800-31811600	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr6:31808800-31812400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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