Variant report

Variant	rs2906747
Chromosome Location	chr7:101474226-101474227
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101473490..101475877-chr7:101498449..101501433,2	MCF-7	breast:
2	chr7:101464818..101467141-chr7:101471614..101474265,2	K562	blood:
3	chr7:101459266..101461731-chr7:101472956..101474628,2	K562	blood:

Variant related genes	Relation type
ENSG00000257923	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2906717	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906719	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906721	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906741	0.84[AMR][1000 genomes]
rs2906743	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906745	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2906746	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2906748	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970461	0.87[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs2970462	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970463	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970464	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970465	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970466	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970467	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970469	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2970470	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73183694	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1024319	chr7:101368299-101668159	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv539047	chr7:101368299-101668159	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv1020372	chr7:101420819-101718950	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv824243	chr7:101445202-101479651	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	nsv521041	chr7:101458144-101496391	ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101461200-101475200	Weak transcription	Esophagus	oesophagus
2	chr7:101461200-101475400	Weak transcription	Colonic Mucosa	Colon
3	chr7:101461200-101475400	Weak transcription	Gastric	stomach
4	chr7:101461200-101486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr7:101461800-101477000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr7:101461800-101489200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:101462000-101477000	Weak transcription	Brain Hippocampus Middle	brain
8	chr7:101462200-101482200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:101462200-101484200	Weak transcription	Fetal Kidney	kidney
10	chr7:101463800-101489800	Weak transcription	NHEK	skin
11	chr7:101464400-101478400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:101464600-101488800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr7:101465800-101482000	Weak transcription	K562	blood
14	chr7:101466800-101482200	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr7:101466800-101489800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:101466800-101498400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:101467000-101480200	Weak transcription	Aorta	Aorta
18	chr7:101467000-101480200	Weak transcription	Pancreas	Pancrea
19	chr7:101467000-101480600	Weak transcription	HSMM	muscle
20	chr7:101467000-101482000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr7:101467200-101475400	Weak transcription	Stomach Mucosa	stomach
22	chr7:101467200-101477000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:101467200-101481800	Weak transcription	Liver	Liver
24	chr7:101467200-101490400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:101467400-101475400	Weak transcription	A549	lung
26	chr7:101467400-101490400	Weak transcription	Fetal Lung	lung
27	chr7:101467600-101476800	Strong transcription	Fetal Intestine Small	intestine
28	chr7:101468800-101486600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:101469000-101476000	Weak transcription	Primary B cells from peripheral blood	blood
30	chr7:101469000-101483000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:101469000-101486600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr7:101469000-101489800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:101469200-101489800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:101469400-101476600	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:101469400-101487000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:101469400-101489800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr7:101469600-101480000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:101469600-101487000	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:101469600-101490000	Weak transcription	HepG2	liver
40	chr7:101470000-101475400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:101470000-101475400	Weak transcription	Brain Germinal Matrix	brain
42	chr7:101470000-101480200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr7:101470000-101482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:101470000-101496600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:101470200-101475400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr7:101470200-101482200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr7:101470200-101482200	Weak transcription	Ovary	ovary
48	chr7:101470600-101476200	Weak transcription	Spleen	Spleen
49	chr7:101471000-101474600	Strong transcription	Dnd41	blood
50	chr7:101471000-101477200	Strong transcription	Fetal Stomach	stomach

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