Variant report

Variant	rs11767617
Chromosome Location	chr7:111376631-111376632
allele	C/T
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	chr7:111376617-111376730	HUVEC	blood vessel:	n/a	n/a
2	CTCF	chr7:111375677-111376705	IMR90	lung:	n/a	chr7:111375920-111375933 chr7:111375913-111375934 chr7:111375918-111375936 chr7:111375921-111375931
3	SMC3	chr7:111374996-111376958	SK-N-SH	brain:	n/a	chr7:111375920-111375934
4	FOS	chr7:111376544-111376739	MCF10A-Er-Src	breast:	n/a	chr7:111376708-111376717 chr7:111376707-111376719 chr7:111376710-111376721 chr7:111376708-111376718 chr7:111376552-111376560 chr7:111376708-111376718 chr7:111376708-111376718 chr7:111376707-111376718 chr7:111376708-111376718
5	CTCF	chr7:111375326-111376853	SK-N-SH	brain:	n/a	chr7:111375920-111375933 chr7:111375913-111375934 chr7:111375918-111375936 chr7:111375921-111375931
6	JUND	chr7:111375269-111377069	SK-N-SH	brain:	n/a	chr7:111376708-111376717 chr7:111376707-111376719 chr7:111375896-111375906 chr7:111376710-111376721 chr7:111375896-111375906 chr7:111376708-111376718 chr7:111375895-111375906 chr7:111376552-111376560 chr7:111376708-111376718 chr7:111376708-111376718 chr7:111375896-111375906 chr7:111376708-111376718
7	GATA2	chr7:111376539-111376970	HUVEC	blood vessel:	n/a	chr7:111376720-111376729
8	FOS	chr7:111376537-111376763	MCF10A-Er-Src	breast:	n/a	chr7:111376708-111376717 chr7:111376707-111376719 chr7:111376710-111376721 chr7:111376708-111376718 chr7:111376552-111376560 chr7:111376708-111376718 chr7:111376708-111376718 chr7:111376707-111376718 chr7:111376708-111376718
9	RCOR1	chr7:111375738-111376665	K562	blood:	n/a	n/a
10	JUND	chr7:111376591-111376870	K562	blood:	n/a	chr7:111376708-111376717 chr7:111376707-111376719 chr7:111376710-111376721 chr7:111376708-111376718 chr7:111376708-111376718 chr7:111376708-111376718 chr7:111376708-111376718
11	FOS	chr7:111376488-111376868	HUVEC	blood vessel:	n/a	chr7:111376708-111376717 chr7:111376707-111376719 chr7:111376710-111376721 chr7:111376708-111376718 chr7:111376552-111376560 chr7:111376708-111376718 chr7:111376708-111376718 chr7:111376707-111376718 chr7:111376708-111376718
12	RAD21	chr7:111374383-111377073	SK-N-SH	brain:	n/a	chr7:111375918-111375930 chr7:111375916-111375935

No.	Distal block	Cell Line	Cell type
1	chr7:111134814..111136903-chr7:111375803..111377811,2	MCF-7	breast:
2	chr7:111200196..111203350-chr7:111373480..111377525,4	K562	blood:
3	chr7:111366407..111373031-chr7:111375132..111379743,6	K562	blood:
4	chr7:110953570..110955733-chr7:111376151..111377847,2	MCF-7	breast:
5	chr7:110969454..110970228-chr7:111375556..111376647,3	MCF-7	breast:
6	chr7:111375968..111377581-chr7:111379996..111381507,2	K562	blood:
7	chr7:111200196..111203350-chr7:111375147..111377525,3	K562	blood:
8	chr7:111374582..111377494-chr7:111380762..111382882,2	K562	blood:

Variant related genes	Relation type
DOCK4	TF binding region
ENSG00000128512	Chromatin interaction
ENSG00000184903	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10246451	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10275090	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1054188	0.95[ASN][1000 genomes]
rs11971917	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12705797	1.00[ASN][1000 genomes]
rs17545234	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2078984	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2097712	1.00[CHB][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2301678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3779458	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3801792	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs4416770	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4730498	0.90[EUR][1000 genomes]
rs6950977	1.00[CEU][hapmap];1.00[YRI][hapmap];0.93[EUR][1000 genomes]
rs73432043	0.95[ASN][1000 genomes]
rs757031	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7803753	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs867915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9641464	0.95[ASN][1000 genomes]
rs9641471	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs9691349	1.00[CHB][hapmap];0.90[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2764041	chr7:110918713-111395390	Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv932103	chr7:111092431-111412049	Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	nsv869375	chr7:111105151-111470811	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
10	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
11	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
12	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv1034375	chr7:111337109-111459099	Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11767617	PNLDC1	trans	lymphoblastoid	seeQTL

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111363000-111418000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr7:111364200-111378800	Weak transcription	HepG2	liver
3	chr7:111366600-111383000	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr7:111366800-111384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:111366800-111394200	Weak transcription	Gastric	stomach
6	chr7:111367400-111401600	Weak transcription	Colonic Mucosa	Colon
7	chr7:111368000-111378400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr7:111368800-111383000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:111368800-111383200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr7:111368800-111383200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:111369000-111379200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:111369000-111382000	Weak transcription	Pancreas	Pancrea
13	chr7:111369200-111379000	Weak transcription	Esophagus	oesophagus
14	chr7:111369200-111384200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:111369200-111386000	Weak transcription	Spleen	Spleen
16	chr7:111370000-111383400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:111371200-111383400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:111371400-111379200	Weak transcription	Fetal Kidney	kidney
19	chr7:111371600-111384600	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:111371800-111377800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:111371800-111383200	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:111371800-111384600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:111373000-111383200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:111373400-111377800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr7:111373400-111384200	Weak transcription	NHDF-Ad	bronchial
26	chr7:111373400-111384200	Weak transcription	NHLF	lung
27	chr7:111373600-111383000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:111373600-111383400	Weak transcription	Aorta	Aorta
29	chr7:111373600-111389000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:111373600-111390200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:111373600-111414000	Weak transcription	Right Ventricle	heart
32	chr7:111373800-111387200	Weak transcription	Placenta	Placenta
33	chr7:111373800-111390000	Weak transcription	Psoas Muscle	Psoas
34	chr7:111374000-111378200	Weak transcription	Brain Germinal Matrix	brain
35	chr7:111374200-111383400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:111374800-111376800	Enhancers	HSMMtube	muscle
37	chr7:111375000-111378400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:111375000-111378800	Weak transcription	Fetal Brain Female	brain
39	chr7:111375200-111376800	Enhancers	Brain Angular Gyrus	brain
40	chr7:111375200-111376800	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr7:111375200-111377000	Genic enhancers	Brain Anterior Caudate	brain
42	chr7:111375200-111377000	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr7:111375400-111377000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:111375400-111378400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:111375600-111377000	Enhancers	Osteobl	bone
46	chr7:111375800-111378000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:111375800-111383400	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr7:111375800-111394200	Weak transcription	Fetal Heart	heart
49	chr7:111376000-111378000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:111376000-111378400	Weak transcription	Brain Inferior Temporal Lobe	brain

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