Variant report

Variant	rs11751198
Chromosome Location	chr6:31753526-31753527
allele	A/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	chr6:31751091-31754082	HepG2	liver:	n/a	n/a
2	POLR2A	chr6:31751709-31753668	GM12892	blood:	n/a	n/a
3	POLR2A	chr6:31751826-31753559	K562	blood:	n/a	n/a
4	POLR2A	chr6:31752958-31753528	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr6:31751639-31753755	K562	blood:	n/a	n/a
6	POLR2A	chr6:31752960-31753612	GM12892	blood:	n/a	n/a
7	POLR2A	chr6:31752988-31753615	GM12892	blood:	n/a	n/a
8	POLR2A	chr6:31751648-31753665	SK-N-MC	brain:	n/a	n/a
9	POLR2A	chr6:31752865-31753674	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:31745135..31746968-chr6:31753465..31755555,2	MCF-7	breast:
2	chr6:31752972..31755062-chr6:31868353..31870238,2	K562	blood:

Variant related genes	Relation type
VARS	TF binding region
ENSG00000166278	Chromatin interaction
ENSG00000204366	Chromatin interaction
ENSG00000204394	Chromatin interaction
ENSG00000201555	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10484558	0.82[ASN][1000 genomes]
rs10947220	0.82[ASN][1000 genomes]
rs11751961	0.94[ASN][1000 genomes]
rs11752672	0.82[ASN][1000 genomes]
rs11753145	0.82[ASN][1000 genomes]
rs11754464	0.94[ASN][1000 genomes]
rs11758142	0.88[ASN][1000 genomes]
rs11759353	0.94[ASN][1000 genomes]
rs17207225	0.82[ASN][1000 genomes]
rs28571956	0.88[ASN][1000 genomes]
rs34606581	0.94[ASN][1000 genomes]
rs5030798	0.94[ASN][1000 genomes]
rs61761946	0.88[ASN][1000 genomes]
rs73400280	0.82[AFR][1000 genomes]
rs9469053	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:29 , 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	nsv884431	chr6:31732679-31761386	Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
19	nsv601943	chr6:31733544-31763862	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	55 gene(s)	inside rSNPs	diseases
20	nsv884432	chr6:31734117-31777687	Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
21	nsv884433	chr6:31737701-31777687	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
22	nsv884436	chr6:31739881-31754096	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	35 gene(s)	inside rSNPs	diseases
23	nsv884437	chr6:31739881-31777687	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
24	nsv884439	chr6:31742590-31754096	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
25	nsv884440	chr6:31743882-31775984	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
26	nsv884441	chr6:31745518-31754096	Strong transcription Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
27	nsv884442	chr6:31745518-31764899	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	43 gene(s)	inside rSNPs	diseases
28	nsv884443	chr6:31745518-31777687	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
29	nsv601944	chr6:31749541-31763862	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	40 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11751198	DDR1	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31745000-31760200	Weak transcription	Psoas Muscle	Psoas
2	chr6:31745000-31762400	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:31745200-31760400	Weak transcription	Fetal Brain Male	brain
4	chr6:31745200-31761000	Strong transcription	Fetal Stomach	stomach
5	chr6:31745400-31753600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:31745400-31753600	Strong transcription	NHLF	lung
7	chr6:31745400-31753800	Strong transcription	Gastric	stomach
8	chr6:31745400-31755200	Strong transcription	Fetal Brain Female	brain
9	chr6:31745400-31761600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:31745400-31762800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:31745600-31753600	Strong transcription	Thymus	Thymus
12	chr6:31745600-31753800	Strong transcription	Esophagus	oesophagus
13	chr6:31745600-31753800	Strong transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:31745600-31754600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:31745600-31755000	Strong transcription	NHEK	skin
16	chr6:31745600-31755800	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr6:31745600-31758800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:31745600-31759400	Strong transcription	Dnd41	blood
19	chr6:31745600-31760400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:31745600-31760400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:31745600-31760600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr6:31745600-31760800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:31745600-31760800	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr6:31745600-31760800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:31745600-31760800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr6:31745600-31762200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr6:31745800-31753600	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr6:31745800-31753600	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:31745800-31753600	Strong transcription	Primary T cells from cord blood	blood
30	chr6:31745800-31753600	Strong transcription	Brain Anterior Caudate	brain
31	chr6:31745800-31753600	Strong transcription	Right Ventricle	heart
32	chr6:31745800-31753800	Strong transcription	Duodenum Mucosa	Duodenum
33	chr6:31745800-31754200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:31745800-31754200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr6:31745800-31754200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr6:31745800-31754200	Strong transcription	Fetal Thymus	thymus
37	chr6:31745800-31754600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:31745800-31754600	Strong transcription	Muscle Satellite Cultured Cells	--
39	chr6:31745800-31754800	Strong transcription	Placenta	Placenta
40	chr6:31745800-31755000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:31745800-31755400	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr6:31745800-31755600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr6:31745800-31756200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:31745800-31756400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr6:31745800-31757000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:31745800-31758600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:31745800-31760800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:31745800-31760800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr6:31745800-31761000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:31745800-31762000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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