Variant report

Variant	rs73712556
Chromosome Location	chr7:101465507-101465508
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:101463126..101465910-chr7:101556638..101559361,3	K562	blood:
2	chr7:101462493..101465700-chr7:101703860..101705566,3	MCF-7	breast:
3	chr7:101464818..101467141-chr7:101471614..101474265,2	K562	blood:
4	chr7:101464106..101466610-chr7:101588018..101589730,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10232848	0.89[AFR][1000 genomes]
rs10244568	0.82[AFR][1000 genomes]
rs10257848	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271358	0.89[AFR][1000 genomes]
rs10272452	0.89[AFR][1000 genomes]
rs10273927	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6944983	0.83[AFR][1000 genomes]
rs6945158	0.86[AFR][1000 genomes]
rs9656068	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9656070	1.00[AFR][1000 genomes];1.00[AMR][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	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	nsv831079	chr7:101273495-101466776	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1021797	chr7:101342353-101466957	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv539046	chr7:101342353-101466957	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:101461200-101466400	Weak transcription	Pancreas	Pancrea
2	chr7:101461200-101466800	Weak transcription	Brain Substantia Nigra	brain
3	chr7:101461200-101468600	Weak transcription	Spleen	Spleen
4	chr7:101461200-101469800	Weak transcription	Primary T cells fromperipheralblood	blood
5	chr7:101461200-101471800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr7:101461200-101475200	Weak transcription	Esophagus	oesophagus
7	chr7:101461200-101475400	Weak transcription	Colonic Mucosa	Colon
8	chr7:101461200-101475400	Weak transcription	Gastric	stomach
9	chr7:101461200-101486200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:101461400-101466400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr7:101461400-101468400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr7:101461400-101468600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:101461400-101468600	Weak transcription	Ovary	ovary
14	chr7:101461400-101470600	Weak transcription	NHLF	lung
15	chr7:101461400-101471400	Weak transcription	Primary T cells from cord blood	blood
16	chr7:101461400-101473000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr7:101461600-101465600	Weak transcription	Fetal Brain Female	brain
18	chr7:101461600-101466600	Weak transcription	HSMM	muscle
19	chr7:101461600-101469800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:101461800-101477000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr7:101461800-101489200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr7:101462000-101466400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr7:101462000-101468200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:101462000-101469400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr7:101462000-101470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:101462000-101477000	Weak transcription	Brain Hippocampus Middle	brain
27	chr7:101462200-101466600	Weak transcription	Small Intestine	intestine
28	chr7:101462200-101468200	Weak transcription	Primary B cells from peripheral blood	blood
29	chr7:101462200-101468600	Weak transcription	Fetal Stomach	stomach
30	chr7:101462200-101470200	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr7:101462200-101472600	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:101462200-101473200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr7:101462200-101482200	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:101462200-101484200	Weak transcription	Fetal Kidney	kidney
35	chr7:101462400-101465600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr7:101462400-101465600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr7:101462400-101465600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr7:101462400-101466000	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:101462400-101466400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:101462400-101466400	Weak transcription	Aorta	Aorta
41	chr7:101462400-101466400	Weak transcription	Stomach Mucosa	stomach
42	chr7:101462400-101466600	Weak transcription	Hela-S3	cervix
43	chr7:101462400-101468200	Weak transcription	Right Atrium	heart
44	chr7:101462400-101468400	Weak transcription	Fetal Intestine Large	intestine
45	chr7:101462400-101468600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:101462400-101468800	Weak transcription	Lung	lung
47	chr7:101462400-101470400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:101462400-101474200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr7:101462600-101471400	Weak transcription	Osteobl	bone
50	chr7:101462800-101466600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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