Variant report

Variant	rs6651126
Chromosome Location	chr7:80455980-80455981
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:80441927..80444067-chr7:80454109..80456585,2	MCF-7	breast:
2	chr7:80455005..80456745-chr7:80546321..80548390,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075223	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs3211889	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv888524	chr7:80107798-80723062	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1028776	chr7:80414636-80555284	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80410400-80462400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:80417600-80456600	Weak transcription	Fetal Brain Female	brain
3	chr7:80425200-80460000	Weak transcription	Psoas Muscle	Psoas
4	chr7:80425400-80480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:80427400-80483800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:80431000-80459800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:80436400-80459000	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr7:80436800-80456200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:80439400-80456200	Weak transcription	Adipose Nuclei	Adipose
10	chr7:80439400-80463200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:80440000-80460400	Weak transcription	Fetal Muscle Leg	muscle
12	chr7:80445600-80458200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr7:80446400-80472000	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:80450000-80456000	Strong transcription	HSMM	muscle
15	chr7:80451200-80456200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr7:80451400-80456400	Strong transcription	NHDF-Ad	bronchial
17	chr7:80451600-80462800	Weak transcription	Brain Angular Gyrus	brain
18	chr7:80452000-80456400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr7:80452000-80459400	Weak transcription	Small Intestine	intestine
20	chr7:80452000-80461800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:80453800-80457400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:80453800-80458600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr7:80453800-80460000	Weak transcription	Right Atrium	heart
24	chr7:80454000-80456000	Weak transcription	HSMMtube	muscle
25	chr7:80454200-80458200	Weak transcription	Fetal Intestine Large	intestine
26	chr7:80454400-80459000	Weak transcription	Fetal Intestine Small	intestine
27	chr7:80454600-80457400	Enhancers	HMEC	breast
28	chr7:80454600-80460000	Enhancers	Colon Smooth Muscle	Colon
29	chr7:80454600-80481000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:80455000-80456000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:80455000-80456600	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr7:80455000-80456800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr7:80455000-80460000	Weak transcription	Fetal Stomach	stomach
34	chr7:80455200-80460000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:80455400-80456000	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr7:80455400-80456200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr7:80455400-80456400	Genic enhancers	NH-A	brain
38	chr7:80455400-80456600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr7:80455400-80457400	Enhancers	Brain Substantia Nigra	brain
40	chr7:80455600-80456800	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr7:80455600-80456800	Enhancers	Stomach Smooth Muscle	stomach
42	chr7:80455600-80457800	Enhancers	NHLF	lung
43	chr7:80455600-80458200	Enhancers	NHEK	skin
44	chr7:80455600-80459200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:80455600-80461600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:80455600-80461800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:80455600-80462000	Enhancers	Rectal Smooth Muscle	rectum
48	chr7:80455800-80456400	Transcr. at gene 5' and 3'	A549	lung
49	chr7:80455800-80456400	Genic enhancers	Osteobl	bone
50	chr7:80455800-80457400	Enhancers	Brain Hippocampus Middle	brain

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