Variant report

Variant	rs72961942
Chromosome Location	chr6:74214006-74214007
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74207712..74210147-chr6:74213274..74215713,2	K562	blood:
2	6:74062967-74076046..6:74208016-74225478	GM12878	blood:
3	chr6:74212218..74214246-chr6:74217033..74219133,3	K562	blood:
4	6:74078047-74099067..6:74208016-74225478	GM12878	blood:
5	chr6:74212439..74215009-chr6:74224269..74226857,3	K562	blood:
6	chr6:74213210..74215284-chr6:74222845..74225477,3	MCF-7	breast:
7	6:74160392-74184826..6:74208016-74225478	GM12878	blood:
8	chr6:74212677..74214700-chr6:74230113..74232065,2	MCF-7	breast:
9	6:74099986-74112890..6:74208016-74225478	Hela-S3	cervix:
10	chr6:74212332..74214676-chr6:74216412..74218597,2	MCF-7	breast:
11	chr6:74110288..74112026-chr6:74213915..74216255,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207023	Chromatin interaction
ENSG00000164430	Chromatin interaction
ENSG00000235174	Chromatin interaction
ENSG00000238464	Chromatin interaction
ENSG00000080007	Chromatin interaction
ENSG00000224221	Chromatin interaction
ENSG00000231332	Chromatin interaction
ENSG00000135297	Chromatin interaction
ENSG00000203908	Chromatin interaction
ENSG00000203909	Chromatin interaction
ENSG00000156508	Chromatin interaction
ENSG00000203907	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11964808	1.00[AFR][1000 genomes]
rs11965436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11968395	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11969010	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12199577	0.81[AMR][1000 genomes]
rs12205957	0.81[AMR][1000 genomes]
rs12205991	0.81[AMR][1000 genomes]
rs12662148	1.00[AFR][1000 genomes]
rs12663695	1.00[AFR][1000 genomes]
rs3734516	1.00[AFR][1000 genomes]
rs3806980	1.00[EUR][1000 genomes]
rs72951364	1.00[EUR][1000 genomes]
rs72953359	0.92[EUR][1000 genomes]
rs72960023	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72960035	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72960044	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72960049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72960065	0.98[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs930807	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv830693	chr6:74049342-74216080	Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
4	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers 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	178 gene(s)	inside rSNPs	diseases
5	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
7	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
8	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription 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 miRNA target site	172 gene(s)	inside rSNPs	diseases
9	esv2763576	chr6:74197638-74277249	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74172200-74229200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:74181800-74214800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:74187600-74228400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:74192000-74214200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:74192000-74225000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:74192200-74226000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:74192400-74225000	Weak transcription	Stomach Mucosa	stomach
8	chr6:74197800-74225200	Weak transcription	Colonic Mucosa	Colon
9	chr6:74198800-74225000	Weak transcription	Fetal Brain Male	brain
10	chr6:74199000-74224200	Weak transcription	A549	lung
11	chr6:74200000-74215000	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr6:74200000-74215200	Strong transcription	Liver	Liver
13	chr6:74200400-74214600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:74200600-74214600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr6:74200600-74214800	Strong transcription	Fetal Thymus	thymus
16	chr6:74200800-74214400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:74200800-74214800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr6:74201000-74215400	Strong transcription	Fetal Intestine Small	intestine
19	chr6:74201400-74214600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:74203600-74214600	Strong transcription	Fetal Muscle Trunk	muscle
21	chr6:74203600-74215000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr6:74205600-74214600	Strong transcription	Primary T cells from cord blood	blood
23	chr6:74206000-74225000	Weak transcription	Pancreas	Pancrea
24	chr6:74207000-74214200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:74207000-74214200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr6:74207000-74214200	Strong transcription	Adipose Nuclei	Adipose
27	chr6:74207000-74214600	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:74207000-74214600	Strong transcription	Fetal Stomach	stomach
29	chr6:74207000-74214800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr6:74207000-74215000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr6:74207000-74215000	Strong transcription	Duodenum Mucosa	Duodenum
32	chr6:74207400-74215000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:74208000-74225200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr6:74208200-74221400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr6:74208400-74225000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:74208400-74226000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr6:74208400-74226400	Weak transcription	Ovary	ovary
38	chr6:74209000-74224800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr6:74209200-74225000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr6:74209800-74224200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr6:74210400-74224000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr6:74210400-74224000	Weak transcription	Small Intestine	intestine
43	chr6:74210800-74224600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:74211400-74225000	Weak transcription	Esophagus	oesophagus
45	chr6:74211600-74214200	Weak transcription	Psoas Muscle	Psoas
46	chr6:74211600-74215200	Weak transcription	Placenta	Placenta
47	chr6:74211600-74221400	Weak transcription	K562	blood
48	chr6:74211600-74223600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr6:74211600-74224600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr6:74211600-74224600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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