Variant report

Variant	rs12670723
Chromosome Location	chr7:102476602-102476603
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:102474929..102477472-chr7:102495351..102498066,2	K562	blood:

Variant related genes	Relation type
ENSG00000238324	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11543780	1.00[CEU][hapmap];0.85[GIH][hapmap]
rs12668311	1.00[CEU][hapmap];0.91[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12673840	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17136122	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28817087	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3748110	1.00[AFR][1000 genomes]
rs3800939	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4457269	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59099783	0.80[AMR][1000 genomes]
rs60545001	1.00[AFR][1000 genomes]
rs6465884	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6942688	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6963884	1.00[CEU][hapmap];0.95[GIH][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes]
rs6969209	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[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	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv2761100	chr7:102335787-102481978	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv470382	chr7:102375663-102538515	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv608057	chr7:102440184-102538515	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv608058	chr7:102466741-102571713	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv608059	chr7:102470455-102504773	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:102447400-102477200	Weak transcription	Psoas Muscle	Psoas
2	chr7:102448000-102479000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:102452000-102480000	Weak transcription	Colon Smooth Muscle	Colon
4	chr7:102454200-102484600	Weak transcription	Primary hematopoietic stem cells	blood
5	chr7:102459800-102481800	Weak transcription	Brain Substantia Nigra	brain
6	chr7:102460400-102477000	Weak transcription	Stomach Mucosa	stomach
7	chr7:102460400-102480800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr7:102460800-102480800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:102468000-102484600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:102468200-102481000	Weak transcription	Brain Germinal Matrix	brain
11	chr7:102469800-102477600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr7:102469800-102478400	Weak transcription	Fetal Intestine Small	intestine
13	chr7:102469800-102478800	Weak transcription	Primary B cells from cord blood	blood
14	chr7:102470000-102477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:102470000-102478000	Weak transcription	HepG2	liver
16	chr7:102470000-102479000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr7:102470000-102490200	Weak transcription	Gastric	stomach
18	chr7:102470000-102516400	Weak transcription	Pancreas	Pancrea
19	chr7:102470200-102476800	Weak transcription	Fetal Heart	heart
20	chr7:102470200-102477000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr7:102470200-102478400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr7:102470200-102481800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr7:102470400-102476800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:102470400-102477200	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr7:102470400-102477600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr7:102470400-102477600	Weak transcription	Fetal Intestine Large	intestine
27	chr7:102470400-102477600	Weak transcription	Fetal Muscle Leg	muscle
28	chr7:102470400-102477600	Weak transcription	Ovary	ovary
29	chr7:102470400-102479800	Weak transcription	Lung	lung
30	chr7:102470400-102480400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:102470400-102481600	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:102470400-102482800	Weak transcription	Brain Anterior Caudate	brain
33	chr7:102470600-102477000	Weak transcription	Adipose Nuclei	Adipose
34	chr7:102470600-102481800	Weak transcription	Brain Angular Gyrus	brain
35	chr7:102470800-102476800	Weak transcription	Hela-S3	cervix
36	chr7:102470800-102477000	Weak transcription	Aorta	Aorta
37	chr7:102470800-102484400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:102470800-102493200	Weak transcription	Primary T cells from cord blood	blood
39	chr7:102471200-102477000	Weak transcription	Fetal Stomach	stomach
40	chr7:102471600-102476800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr7:102471600-102480200	Weak transcription	Liver	Liver
42	chr7:102471800-102500000	Weak transcription	Left Ventricle	heart
43	chr7:102472000-102484800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:102474600-102478000	Enhancers	HUVEC	blood vessel
45	chr7:102474800-102478000	Enhancers	HSMM	muscle
46	chr7:102475000-102476800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:102475000-102477400	Enhancers	HMEC	breast
48	chr7:102475000-102477800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:102475000-102477800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:102475000-102477800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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