Variant report

Variant	rs6967207
Chromosome Location	chr7:12767493-12767494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12766010..12767931-chr7:14032375..14035342,2	K562	blood:
2	chr7:12727110..12728788-chr7:12767239..12768963,2	K562	blood:
3	chr7:12766596..12768749-chr7:12802172..12804632,2	K562	blood:
4	chr7:12729128..12735523-chr7:12765929..12775781,12	K562	blood:

Variant related genes	Relation type
ENSG00000122644	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11971932	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11971985	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11974025	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11974943	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11977551	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11978862	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11981713	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12155360	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540769	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1524937	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2058047	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2058048	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34655971	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55694038	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56083439	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57829157	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6954577	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6961321	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73055478	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055481	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73055489	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73055490	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73061017	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73061027	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7784389	0.92[AFR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7807269	0.89[AFR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][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	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2422346	chr7:12739291-12883550	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1027501	chr7:12743592-12927109	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv887641	chr7:12747443-12782062	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12756200-12768800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:12756400-12770800	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:12756600-12770800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr7:12758000-12770800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:12759200-12770200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:12759200-12771200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr7:12760000-12768800	Weak transcription	HSMMtube	muscle
8	chr7:12760000-12768800	Weak transcription	NHEK	skin
9	chr7:12760400-12770600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:12760400-12770800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:12760600-12767800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:12762600-12770800	Weak transcription	Stomach Mucosa	stomach
13	chr7:12762800-12770800	Weak transcription	Small Intestine	intestine
14	chr7:12763000-12767800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:12763000-12768800	Weak transcription	A549	lung
16	chr7:12763000-12770200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr7:12763200-12767600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:12763200-12767800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr7:12763200-12768600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr7:12763200-12768600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:12763200-12769000	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr7:12763400-12768400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:12763400-12768800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:12765400-12767600	Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr7:12765400-12768400	Flanking Active TSS	K562	blood
26	chr7:12766000-12768800	Weak transcription	Fetal Heart	heart
27	chr7:12766400-12768000	Enhancers	Right Ventricle	heart
28	chr7:12766400-12768800	Weak transcription	Left Ventricle	heart
29	chr7:12766600-12767800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:12766600-12768200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:12766600-12768800	Weak transcription	Ovary	ovary
32	chr7:12766600-12768800	Weak transcription	Right Atrium	heart
33	chr7:12766600-12771800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr7:12766600-12772000	Enhancers	HUVEC	blood vessel
35	chr7:12766800-12767800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:12766800-12768000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr7:12766800-12768000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr7:12766800-12771600	Enhancers	ES-I3 Cell Line	embryonic stem cell
39	chr7:12767000-12767800	Enhancers	Adipose Nuclei	Adipose
40	chr7:12767000-12767800	Enhancers	Psoas Muscle	Psoas
41	chr7:12767000-12768000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr7:12767000-12769200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:12767400-12768400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr7:12767400-12769000	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr7:12767400-12769200	Enhancers	Fetal Muscle Leg	muscle
46	chr7:12767400-12769200	Enhancers	Fetal Stomach	stomach
47	chr7:12767400-12769200	Enhancers	Skeletal Muscle Male	skeletal muscle

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