Variant report

Variant	rs72960631
Chromosome Location	chr6:119559013-119559014
allele	A/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	chr17:31149136..31150335-chr6:119558116..119559093,4	MCF-7	breast:
2	chr21:9825830..9826433-chr6:119558579..119559086,2	MCF-7	breast:
3	chr2:133034721..133036011-chr6:119558119..119559094,3	MCF-7	breast:
4	chr3:115538408..115539011-chr6:119558162..119559112,2	MCF-7	breast:
5	chr5:97899000..97899520-chr6:119558658..119559166,2	MCF-7	breast:
6	chr17:31149419..31151377-chr6:119557104..119560086,5	MCF-7	breast:
7	chr6:119558122..119561935-chr6:119561959..119566839,6	K562	blood:
8	chr2:133035511..133036512-chr6:119558095..119559109,4	MCF-7	breast:
9	chr2:133035208..133036380-chr6:119558135..119559188,4	MCF-7	breast:
10	chr6:119558682..119563599-chr6:119563682..119567581,7	K562	blood:
11	chr2:133034522..133037379-chr6:119557092..119560188,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264063	Chromatin interaction
ENSG00000264462	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1022869	0.85[EUR][1000 genomes]
rs1028327	0.83[EUR][1000 genomes]
rs1028328	0.83[EUR][1000 genomes]
rs10456921	0.85[EUR][1000 genomes]
rs10457352	0.85[EUR][1000 genomes]
rs10457353	0.85[EUR][1000 genomes]
rs10485001	0.85[EUR][1000 genomes]
rs10872173	0.83[EUR][1000 genomes]
rs10872177	0.83[EUR][1000 genomes]
rs11153796	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11153797	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11153800	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11153803	0.88[EUR][1000 genomes]
rs11153805	0.86[EUR][1000 genomes]
rs11153808	0.85[EUR][1000 genomes]
rs11153810	0.85[EUR][1000 genomes]
rs11153811	0.85[EUR][1000 genomes]
rs11153812	0.85[EUR][1000 genomes]
rs11751945	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11755967	0.82[EUR][1000 genomes]
rs11759899	0.85[EUR][1000 genomes]
rs11962938	0.84[EUR][1000 genomes]
rs12192420	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12198423	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12198667	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12200554	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12205260	0.85[EUR][1000 genomes]
rs12205826	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12207595	0.86[EUR][1000 genomes]
rs12210002	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17514051	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2092218	0.83[EUR][1000 genomes]
rs35433313	0.85[EUR][1000 genomes]
rs4607463	0.84[EUR][1000 genomes]
rs55778105	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6569056	0.83[EUR][1000 genomes]
rs6569057	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6569065	0.85[EUR][1000 genomes]
rs6569066	0.85[EUR][1000 genomes]
rs6909928	0.86[EUR][1000 genomes]
rs6913654	0.85[EUR][1000 genomes]
rs6915957	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7740993	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7743299	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7743824	0.86[EUR][1000 genomes]
rs7753492	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7760582	0.86[EUR][1000 genomes]
rs7763569	0.84[EUR][1000 genomes]
rs7767198	0.85[EUR][1000 genomes]
rs7770777	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs926859	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv522725	chr6:119549468-119565043	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv969440	chr6:119554594-119559045	Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv3414642	chr6:119558639-119559062	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119547400-119583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:119550000-119561600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:119558800-119559400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:119558800-119560200	Weak transcription	Psoas Muscle	Psoas
5	chr6:119558800-119560400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:119558800-119560400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr6:119558800-119560800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr6:119558800-119560800	Weak transcription	HepG2	liver
9	chr6:119558800-119561000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:119558800-119561000	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:119558800-119561000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:119558800-119561000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr6:119558800-119561000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr6:119558800-119561000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr6:119558800-119561000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr6:119558800-119561000	Weak transcription	Fetal Brain Male	brain
17	chr6:119558800-119561000	Weak transcription	Fetal Kidney	kidney
18	chr6:119558800-119561000	Weak transcription	K562	blood
19	chr6:119558800-119561200	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr6:119558800-119561200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:119558800-119561400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr6:119558800-119561600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:119558800-119561600	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:119558800-119561600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:119558800-119561600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:119558800-119561600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr6:119558800-119561600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr6:119558800-119561600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr6:119558800-119561600	Weak transcription	Adipose Nuclei	Adipose
30	chr6:119558800-119561600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr6:119558800-119561600	Weak transcription	Fetal Intestine Small	intestine
32	chr6:119558800-119561600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr6:119558800-119561600	Weak transcription	Right Atrium	heart
34	chr6:119558800-119561600	Weak transcription	HUVEC	blood vessel
35	chr6:119558800-119561600	Weak transcription	NHEK	skin
36	chr6:119558800-119561800	Weak transcription	Colon Smooth Muscle	Colon
37	chr6:119558800-119561800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr6:119558800-119561800	Weak transcription	Fetal Lung	lung
39	chr6:119558800-119561800	Weak transcription	Fetal Stomach	stomach
40	chr6:119558800-119561800	Weak transcription	Ovary	ovary
41	chr6:119558800-119561800	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr6:119558800-119561800	Weak transcription	NH-A	brain
43	chr6:119558800-119562000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:119558800-119562000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:119558800-119562000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:119558800-119562000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr6:119558800-119562000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:119558800-119562000	Weak transcription	Liver	Liver
49	chr6:119558800-119562000	Weak transcription	Brain Anterior Caudate	brain
50	chr6:119558800-119562000	Weak transcription	Brain Inferior Temporal Lobe	brain

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