Variant report

Variant	rs6978767
Chromosome Location	chr7:111943865-111943866
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111941371..111945236-chr7:112089407..112092066,3	K562	blood:

Variant related genes	Relation type
ENSG00000006652	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10233673	0.94[CEU][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10240912	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10251236	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs10257677	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10266365	0.88[JPT][hapmap]
rs10272976	0.82[CEU][hapmap]
rs10435366	0.88[JPT][hapmap]
rs11773464	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12113149	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12113634	0.81[JPT][hapmap]
rs12154685	0.94[JPT][hapmap]
rs12537746	0.95[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.84[ASN][1000 genomes]
rs12705816	0.81[JPT][hapmap]
rs12705817	0.94[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs13236012	0.85[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs2708600	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs2708601	0.82[JPT][hapmap]
rs3948719	0.82[CEU][hapmap]
rs4464880	0.88[JPT][hapmap]
rs4727766	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4730519	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4730524	0.94[CEU][hapmap];0.81[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6949809	0.94[CEU][hapmap];0.87[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6966390	0.87[JPT][hapmap]
rs6966694	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6974364	0.88[JPT][hapmap]
rs6976889	0.95[CEU][hapmap];0.93[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6979385	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs736771	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs757195	0.81[JPT][hapmap]
rs757196	0.87[JPT][hapmap]
rs7789649	0.82[CHB][hapmap];0.94[JPT][hapmap]
rs7802828	0.86[CHB][hapmap];0.81[JPT][hapmap];0.89[ASN][1000 genomes]
rs960348	0.94[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv531436	chr7:111856171-112585407	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	105 gene(s)	inside rSNPs	diseases
4	esv2764032	chr7:111938590-111963829	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111903400-111949200	Weak transcription	Fetal Intestine Small	intestine
2	chr7:111913200-111965200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:111913600-111949600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:111918000-111963000	Weak transcription	Aorta	Aorta
5	chr7:111921400-111961800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr7:111922000-111949800	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr7:111922400-111949800	Weak transcription	Ovary	ovary
8	chr7:111922800-111945000	Weak transcription	Pancreas	Pancrea
9	chr7:111923600-111964600	Weak transcription	Esophagus	oesophagus
10	chr7:111923600-111964800	Weak transcription	Gastric	stomach
11	chr7:111926200-111948000	Weak transcription	Spleen	Spleen
12	chr7:111926200-111979600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:111926600-111982200	Weak transcription	Right Ventricle	heart
14	chr7:111926800-111949000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr7:111926800-111949800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:111926800-111949800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr7:111926800-111962000	Weak transcription	Fetal Brain Female	brain
18	chr7:111926800-111964800	Weak transcription	Lung	lung
19	chr7:111927200-111965000	Weak transcription	Brain Anterior Caudate	brain
20	chr7:111927400-111945800	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr7:111927400-111964800	Weak transcription	Fetal Stomach	stomach
22	chr7:111928600-111947000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:111928600-111978000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:111928800-111946600	Weak transcription	Brain Substantia Nigra	brain
25	chr7:111928800-111949800	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr7:111928800-111949800	Weak transcription	Fetal Muscle Leg	muscle
27	chr7:111928800-111950000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr7:111928800-111961000	Weak transcription	Placenta	Placenta
29	chr7:111929000-111947000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:111929000-111948800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr7:111929000-111949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:111929000-111949600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:111929000-111949800	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:111929000-111958800	Weak transcription	Fetal Thymus	thymus
35	chr7:111929000-111959000	Weak transcription	Fetal Intestine Large	intestine
36	chr7:111929200-111949000	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:111929600-111949000	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr7:111930000-111949800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr7:111930200-111961800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:111930600-111959000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr7:111930800-111947200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:111930800-111949200	Weak transcription	NHEK	skin
43	chr7:111930800-111965200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr7:111931000-111949200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr7:111931000-111949200	Weak transcription	HMEC	breast
46	chr7:111931000-111949200	Weak transcription	HSMM	muscle
47	chr7:111931000-111949400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:111931000-111949800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr7:111931000-111981000	Weak transcription	HSMMtube	muscle
50	chr7:111931400-111947400	Weak transcription	Pancreatic Islets	Pancreatic Islet

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