Variant report

Variant	rs694746
Chromosome Location	chr11:67350720-67350721
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67350656-67352260	PFSK-1	brain:	n/a	n/a
2	MYC	chr11:67349997-67352101	K562	blood:	n/a	chr11:67350276-67350286
3	FOXA2	chr11:67350709-67351479	A549	lung:	n/a	n/a
4	MXI1	chr11:67349666-67350748	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:67350236-67352722	K562	blood:	n/a	n/a
6	RCOR1	chr11:67350662-67352153	IMR90	lung:	n/a	n/a
7	POLR2A	chr11:67350654-67355306	SK-N-MC	brain:	n/a	n/a
8	CEBPB	chr11:67350669-67351473	A549	lung:	n/a	n/a
9	CTCF	chr11:67350656-67351506	SK-N-SH	brain:	n/a	n/a
10	MAZ	chr11:67350681-67352885	IMR90	lung:	n/a	n/a
11	POLR2A	chr11:67349901-67357618	K562	blood:	n/a	n/a
12	POLR2A	chr11:67349991-67350779	GM12892	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67349088..67352896-chr11:67377453..67387652,15	K562	blood:
2	chr11:67275111..67277928-chr11:67348479..67351408,2	MCF-7	breast:
3	chr11:67348020..67353194-chr11:67379787..67385803,14	K562	blood:
4	chr11:67347575..67355744-chr11:67372717..67376912,13	K562	blood:
5	chr11:67347249..67355748-chr11:67372717..67377095,16	K562	blood:
6	chr11:67344360..67352769-chr11:67395394..67400721,12	K562	blood:
7	chr11:67349032..67351635-chr11:67571367..67573562,2	K562	blood:
8	chr11:67269985..67274388-chr11:67349964..67354078,4	K562	blood:
9	chr11:67348847..67353254-chr11:67396059..67399206,10	K562	blood:
10	chr11:67274528..67277767-chr11:67349958..67353064,4	K562	blood:

No data

Variant related genes	Relation type
GSTP1	TF binding region
ENSG00000231793	Chromatin interaction
ENSG00000184224	Chromatin interaction
ENSG00000160172	Chromatin interaction
ENSG00000255119	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000167799	Chromatin interaction
ENSG00000167792	Chromatin interaction
ENSG00000167797	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10896179	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10896180	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11227837	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12225376	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1254123	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1262166	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1269981	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2008922	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2508459	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4147581	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs591434	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs614080	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs625978	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs638140	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs640777	0.89[ASN][1000 genomes]
rs645653	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs656652	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs658768	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs666328	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs674783	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs684928	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
4	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription 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	176 gene(s)	inside rSNPs	diseases
5	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
6	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
7	esv2422195	chr11:67234322-67626901	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	146 gene(s)	inside rSNPs	diseases
8	nsv1041988	chr11:67319916-67749246	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
9	nsv897814	chr11:67339949-67460529	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv1050463	chr11:67343421-67717338	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
11	nsv1038189	chr11:67345320-67749246	Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
12	nsv1047236	chr11:67345320-67764068	Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
13	nsv555268	chr11:67346743-67752972	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
14	nsv1036101	chr11:67346813-67828351	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
15	nsv541079	chr11:67346813-67828351	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
16	nsv897815	chr11:67347595-67408791	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv1053811	chr11:67349444-67749246	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
18	esv1817852	chr11:67349899-67626567	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs694746	PTPRCAP	cis	Nerve Tibial	GTEx
rs694746	NUDT8	cis	Heart Left Ventricle	GTEx
rs694746	PTPRCAP	cis	Heart Left Ventricle	GTEx
rs694746	DOC2GP	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67346800-67351000	Enhancers	Liver	Liver
2	chr11:67347400-67351200	Weak transcription	Spleen	Spleen
3	chr11:67347800-67350800	Weak transcription	Gastric	stomach
4	chr11:67348400-67350800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:67348400-67350800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:67349000-67350800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr11:67349000-67350800	Enhancers	Primary hematopoietic stem cells	blood
8	chr11:67349200-67350800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr11:67349400-67350800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr11:67349600-67350800	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr11:67349600-67350800	Enhancers	Primary B cells from peripheral blood	blood
12	chr11:67349600-67350800	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr11:67349800-67350800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr11:67349800-67350800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:67349800-67350800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr11:67350000-67350800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr11:67350000-67350800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:67350000-67350800	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr11:67350000-67350800	Flanking Active TSS	Dnd41	blood
20	chr11:67350000-67351000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr11:67350000-67351800	Active TSS	Brain Anterior Caudate	brain
22	chr11:67350000-67352000	Active TSS	Brain Germinal Matrix	brain
23	chr11:67350200-67350800	Enhancers	Primary B cells from cord blood	blood
24	chr11:67350200-67350800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:67350200-67350800	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr11:67350200-67350800	Flanking Active TSS	Fetal Intestine Small	intestine
27	chr11:67350200-67350800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
28	chr11:67350200-67351800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr11:67350200-67352000	Active TSS	Rectal Smooth Muscle	rectum
30	chr11:67350200-67352200	Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr11:67350400-67350800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr11:67350400-67350800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:67350400-67350800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:67350400-67350800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr11:67350400-67350800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr11:67350400-67350800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr11:67350400-67350800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr11:67350400-67350800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:67350400-67350800	Enhancers	Colon Smooth Muscle	Colon
40	chr11:67350400-67350800	Enhancers	Esophagus	oesophagus
41	chr11:67350400-67350800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr11:67350400-67350800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:67350400-67350800	Weak transcription	Right Ventricle	heart
44	chr11:67350400-67351000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
45	chr11:67350400-67351000	Active TSS	Colonic Mucosa	Colon
46	chr11:67350400-67351000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr11:67350400-67351400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr11:67350400-67351600	Active TSS	Osteobl	bone
49	chr11:67350400-67352000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr11:67350400-67352000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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