Variant report

Variant	rs6952838
Chromosome Location	chr7:140015711-140015712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140004434..140006473-chr7:140014636..140016485,2	MCF-7	breast:
2	chr7:140014544..140017368-chr7:140028842..140031384,2	MCF-7	breast:
3	chr7:140009936..140012415-chr7:140015586..140017552,2	MCF-7	breast:
4	chr7:139873831..139877475-chr7:140012242..140019161,9	MCF-7	breast:
5	chr7:140014746..140017090-chr7:140018395..140020879,3	K562	blood:
6	chr7:140003129..140009929-chr7:140011645..140017997,10	MCF-7	breast:
7	chr7:139874735..139878684-chr7:140013731..140018103,7	MCF-7	breast:
8	chr7:140015118..140018618-chr7:140021344..140024336,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000260231	Chromatin interaction
ENSG00000006459	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10085561	0.81[ASN][1000 genomes]
rs10237808	0.86[ASN][1000 genomes]
rs12533908	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs28483540	0.97[ASN][1000 genomes]
rs4513893	0.89[CHB][hapmap]
rs4551259	0.97[ASN][1000 genomes]
rs55938265	0.97[ASN][1000 genomes]
rs58630294	0.95[ASN][1000 genomes]
rs60485346	0.98[ASN][1000 genomes]
rs6952512	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6956771	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7776930	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7790724	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7800262	0.89[CHB][hapmap];0.90[GIH][hapmap];0.80[MEX][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	nsv889247	chr7:139855216-140033631	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1026255	chr7:139944473-140043299	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140011600-140016400	Enhancers	Primary B cells from cord blood	blood
2	chr7:140013200-140017800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr7:140013600-140018600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
4	chr7:140013800-140016800	Enhancers	Liver	Liver
5	chr7:140014000-140015800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:140014000-140016000	Flanking Active TSS	HepG2	liver
7	chr7:140014400-140015800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:140014400-140015800	Enhancers	Lung	lung
9	chr7:140014400-140016000	Flanking Active TSS	Colon Smooth Muscle	Colon
10	chr7:140014600-140015800	Enhancers	Brain Angular Gyrus	brain
11	chr7:140014600-140016400	Flanking Active TSS	HMEC	breast
12	chr7:140014600-140016600	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr7:140014600-140016800	Enhancers	Fetal Stomach	stomach
14	chr7:140014600-140017000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:140014800-140015800	Enhancers	Osteobl	bone
16	chr7:140014800-140016600	Flanking Active TSS	Rectal Smooth Muscle	rectum
17	chr7:140014800-140017200	Enhancers	Fetal Brain Male	brain
18	chr7:140015000-140015800	Enhancers	Esophagus	oesophagus
19	chr7:140015000-140015800	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr7:140015000-140016000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr7:140015000-140016000	Enhancers	Gastric	stomach
22	chr7:140015000-140016200	Enhancers	Spleen	Spleen
23	chr7:140015000-140016400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
24	chr7:140015000-140016400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr7:140015000-140016400	Enhancers	Placenta	Placenta
26	chr7:140015000-140016600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr7:140015000-140016800	Enhancers	Small Intestine	intestine
28	chr7:140015000-140017000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:140015000-140017000	Flanking Active TSS	Brain Anterior Caudate	brain
30	chr7:140015000-140017000	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:140015200-140015800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:140015200-140015800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr7:140015200-140015800	Enhancers	Fetal Brain Female	brain
34	chr7:140015200-140016200	Flanking Active TSS	Colonic Mucosa	Colon
35	chr7:140015200-140016200	Enhancers	Fetal Muscle Trunk	muscle
36	chr7:140015200-140016200	Enhancers	Pancreas	Pancrea
37	chr7:140015200-140016600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:140015200-140016800	Enhancers	Fetal Lung	lung
39	chr7:140015200-140016800	Enhancers	Fetal Muscle Leg	muscle
40	chr7:140015400-140015800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:140015400-140015800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:140015400-140015800	Enhancers	Aorta	Aorta
43	chr7:140015400-140015800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr7:140015400-140015800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr7:140015400-140015800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr7:140015400-140016000	Enhancers	HSMMtube	muscle
47	chr7:140015400-140016200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:140015400-140016200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr7:140015400-140016200	Enhancers	Right Ventricle	heart
50	chr7:140015400-140016800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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