Variant report

Variant	rs2097712
Chromosome Location	chr7:111384154-111384155
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	JUND	chr7:111384062-111385557	SK-N-SH	brain:	n/a	chr7:111384822-111384834 chr7:111384849-111384858
2	TCF12	chr7:111384075-111385536	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111381965..111384735-chr7:111387573..111389766,2	K562	blood:
2	chr7:111372370..111374946-chr7:111383099..111385955,2	K562	blood:

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

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10246451	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10275090	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11767617	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]
rs11971917	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12705797	0.85[ASN][1000 genomes]
rs17545234	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2078984	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301678	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3757648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3779458	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3801792	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4416770	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4730498	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6950977	0.85[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs757031	1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7803753	0.85[YRI][hapmap];0.85[AFR][1000 genomes]
rs867915	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9641471	0.93[EUR][1000 genomes]
rs9691349	1.00[CHB][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
rs2097712	PNLDC1	trans	lymphoblastoid	seeQTL

Chromatin state (count:81 , 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	chr7:111366800-111384200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr7:111366800-111394200	Weak transcription	Gastric	stomach
4	chr7:111367400-111401600	Weak transcription	Colonic Mucosa	Colon
5	chr7:111369200-111384200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr7:111369200-111386000	Weak transcription	Spleen	Spleen
7	chr7:111371600-111384600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:111371800-111384600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:111373400-111384200	Weak transcription	NHDF-Ad	bronchial
10	chr7:111373400-111384200	Weak transcription	NHLF	lung
11	chr7:111373600-111389000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:111373600-111390200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr7:111373600-111414000	Weak transcription	Right Ventricle	heart
14	chr7:111373800-111387200	Weak transcription	Placenta	Placenta
15	chr7:111373800-111390000	Weak transcription	Psoas Muscle	Psoas
16	chr7:111375800-111394200	Weak transcription	Fetal Heart	heart
17	chr7:111376000-111387200	Weak transcription	Fetal Brain Male	brain
18	chr7:111376000-111389000	Weak transcription	Fetal Muscle Leg	muscle
19	chr7:111376000-111399600	Weak transcription	Colon Smooth Muscle	Colon
20	chr7:111376600-111386600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr7:111376600-111397000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:111376600-111398200	Weak transcription	A549	lung
23	chr7:111376800-111389200	Weak transcription	HSMMtube	muscle
24	chr7:111377000-111384200	Weak transcription	NH-A	brain
25	chr7:111377000-111384200	Weak transcription	NHEK	skin
26	chr7:111377000-111384400	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr7:111377000-111390000	Weak transcription	Hela-S3	cervix
28	chr7:111377000-111396800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:111377000-111396800	Weak transcription	HMEC	breast
30	chr7:111377800-111384200	Strong transcription	HUVEC	blood vessel
31	chr7:111378400-111384600	Strong transcription	Adipose Nuclei	Adipose
32	chr7:111378600-111390200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:111378800-111389400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr7:111379400-111386400	Weak transcription	HepG2	liver
35	chr7:111379400-111393200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr7:111379600-111388800	Weak transcription	Fetal Kidney	kidney
37	chr7:111379600-111389800	Weak transcription	Fetal Brain Female	brain
38	chr7:111379600-111398000	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr7:111379600-111433600	Weak transcription	Esophagus	oesophagus
40	chr7:111379800-111398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr7:111380000-111396600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:111380800-111387600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr7:111381000-111384200	Weak transcription	Ovary	ovary
44	chr7:111381200-111384200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:111382000-111389800	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:111382200-111391000	Weak transcription	K562	blood
47	chr7:111383000-111384200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:111383000-111387400	Strong transcription	Fetal Lung	lung
49	chr7:111383200-111384600	Strong transcription	Lung	lung
50	chr7:111383400-111384200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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