Variant report

Variant	rs6971621
Chromosome Location	chr7:6725950-6725951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6723454..6727704-chr7:6728321..6732578,5	K562	blood:
2	chr7:6715674..6717325-chr7:6724359..6726574,2	K562	blood:
3	chr7:6723810..6726047-chr7:6741639..6744334,2	K562	blood:
4	chr7:6725102..6727211-chr7:6728659..6731165,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265245	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10244591	0.89[JPT][hapmap]
rs10255119	0.83[EUR][1000 genomes]
rs10271259	0.85[EUR][1000 genomes]
rs10272921	0.89[JPT][hapmap]
rs10951991	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10951994	0.88[JPT][hapmap]
rs12537448	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12673800	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13224907	0.89[JPT][hapmap]
rs13247186	0.87[JPT][hapmap]
rs1464922	0.91[EUR][1000 genomes]
rs1464923	0.94[EUR][1000 genomes]
rs2140909	0.88[CHB][hapmap]
rs2881352	0.94[CHB][hapmap]
rs3735302	0.94[EUR][1000 genomes]
rs3757481	0.94[CHB][hapmap];0.89[JPT][hapmap]
rs3757483	0.82[EUR][1000 genomes]
rs3801033	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs3801038	0.87[CHB][hapmap];0.88[JPT][hapmap]
rs3801039	0.88[CHB][hapmap];0.89[JPT][hapmap]
rs56257118	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58569329	0.85[EUR][1000 genomes]
rs58738503	0.83[EUR][1000 genomes]
rs60514449	0.82[EUR][1000 genomes]
rs62439670	0.85[EUR][1000 genomes]
rs62439674	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62439695	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62439697	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62441324	0.83[EUR][1000 genomes]
rs6463576	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.94[YRI][hapmap];0.82[EUR][1000 genomes]
rs6463580	0.89[JPT][hapmap]
rs6944332	0.88[JPT][hapmap]
rs6948691	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6953825	0.89[JPT][hapmap]
rs6954172	0.88[JPT][hapmap]
rs6964079	1.00[CEU][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6965641	0.94[EUR][1000 genomes]
rs6969066	0.82[EUR][1000 genomes]
rs6974325	1.00[CEU][hapmap];0.94[CHB][hapmap];0.88[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6979127	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap]
rs7779296	0.88[JPT][hapmap]
rs7798471	0.82[CHB][hapmap];0.88[JPT][hapmap]
rs7804259	0.84[JPT][hapmap]
rs7808550	0.88[EUR][1000 genomes]
rs9639027	0.88[CHB][hapmap];0.88[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
4	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
6	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6712200-6739400	ZNF genes & repeats	Adipose Nuclei	Adipose
2	chr7:6712400-6744000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:6714000-6726000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr7:6718600-6742600	ZNF genes & repeats	Liver	Liver
5	chr7:6721400-6745200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr7:6721600-6740800	ZNF genes & repeats	Fetal Brain Female	brain
7	chr7:6721600-6743800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
8	chr7:6721600-6744600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:6721600-6745400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:6721800-6740800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr7:6721800-6744000	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:6722200-6729000	ZNF genes & repeats	Fetal Intestine Small	intestine
13	chr7:6722200-6741400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr7:6722400-6745000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
15	chr7:6722600-6739400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
16	chr7:6722600-6745000	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:6723000-6727400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr7:6723400-6726000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:6723600-6739400	ZNF genes & repeats	HSMMtube	muscle
20	chr7:6723600-6745000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:6723600-6745400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:6723800-6745000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:6724000-6744800	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr7:6724200-6726200	Weak transcription	Fetal Lung	lung
25	chr7:6724200-6726200	Weak transcription	Ovary	ovary
26	chr7:6724400-6727400	Weak transcription	Brain Substantia Nigra	brain
27	chr7:6724400-6727800	ZNF genes & repeats	Fetal Thymus	thymus
28	chr7:6724400-6727800	Weak transcription	HepG2	liver
29	chr7:6724600-6726000	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr7:6724600-6726000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr7:6724600-6726200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:6724600-6726200	Weak transcription	Brain Angular Gyrus	brain
33	chr7:6724600-6726200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr7:6724600-6727400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:6724800-6726200	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:6724800-6726200	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr7:6725000-6739600	ZNF genes & repeats	HSMM	muscle
38	chr7:6725000-6741800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:6725000-6744800	ZNF genes & repeats	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr7:6725200-6726400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:6725200-6726400	Weak transcription	Left Ventricle	heart
42	chr7:6725200-6739400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
43	chr7:6725400-6726200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr7:6725400-6726400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:6725400-6726400	Weak transcription	Brain Germinal Matrix	brain
46	chr7:6725800-6727800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
47	chr7:6725800-6745000	ZNF genes & repeats	NH-A	brain

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