Variant report

Variant	rs28613957
Chromosome Location	chr7:127715158-127715159
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127705316..127708471-chr7:127714024..127716171,3	MCF-7	breast:
2	chr7:127710993..127713528-chr7:127713751..127716663,2	K562	blood:
3	chr7:127712887..127715958-chr7:127718524..127721736,3	K562	blood:
4	chr7:127711312..127714217-chr7:127714878..127716428,2	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11973309	0.90[AFR][1000 genomes]
rs11974695	0.90[AFR][1000 genomes]
rs11979138	0.90[AFR][1000 genomes]
rs322805	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS 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 miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr7:127689400-127717000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
8	chr7:127693200-127718400	Weak transcription	HMEC	breast
9	chr7:127693400-127716600	Weak transcription	Colonic Mucosa	Colon
10	chr7:127693400-127717200	Weak transcription	Small Intestine	intestine
11	chr7:127694400-127716800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:127694800-127717200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:127695200-127718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:127700400-127715400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:127700400-127715400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr7:127701600-127724600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr7:127702800-127727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr7:127703200-127715600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:127703400-127715600	Weak transcription	Brain Hippocampus Middle	brain
20	chr7:127703400-127715600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr7:127703400-127715800	Weak transcription	NH-A	brain
22	chr7:127703600-127716600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr7:127703600-127716800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr7:127704400-127716800	Weak transcription	Ovary	ovary
25	chr7:127706600-127716000	Weak transcription	Fetal Lung	lung
26	chr7:127706800-127715400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr7:127707600-127716000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr7:127707600-127716600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr7:127707800-127742200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr7:127708000-127715400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:127708000-127716600	Weak transcription	HSMM	muscle
32	chr7:127708200-127716800	Weak transcription	Brain Substantia Nigra	brain
33	chr7:127709200-127715800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr7:127709800-127718400	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:127709800-127724600	Weak transcription	NHDF-Ad	bronchial
36	chr7:127710400-127715800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:127710400-127720200	Strong transcription	GM12878-XiMat	blood
38	chr7:127710600-127717200	Weak transcription	HSMMtube	muscle
39	chr7:127710600-127737800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:127711400-127724000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:127711600-127715200	Strong transcription	Fetal Stomach	stomach
42	chr7:127711600-127715200	Strong transcription	Lung	lung
43	chr7:127711600-127715600	Strong transcription	Fetal Intestine Small	intestine
44	chr7:127711600-127716200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:127711600-127727400	Strong transcription	HepG2	liver
46	chr7:127711600-127735600	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr7:127711600-127736400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:127711800-127715800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:127711800-127716800	Strong transcription	Pancreas	Pancrea
50	chr7:127711800-127721800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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