Variant report

Variant	rs11996077
Chromosome Location	chr8:91687392-91687393
allele	A/C
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	chr8:91687150..91691411-chr8:91769036..91770944,3	MCF-7	breast:
2	chr8:91655789..91659978-chr8:91686080..91690997,6	K562	blood:
3	chr8:91653197..91659696-chr8:91680011..91690485,28	MCF-7	breast:
4	chr8:91687095..91689942-chr8:91927484..91931444,3	MCF-7	breast:
5	chr8:91682030..91684734-chr8:91686454..91688857,3	MCF-7	breast:
6	chr8:91652941..91663346-chr8:91680436..91690653,24	MCF-7	breast:
7	chr8:91680534..91682266-chr8:91687162..91689397,2	MCF-7	breast:
8	chr8:91658306..91660838-chr8:91686080..91688474,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000246792	Chromatin interaction
ENSG00000180694	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11987868	0.97[AFR][1000 genomes]
rs11995287	0.94[AFR][1000 genomes]
rs2339227	0.97[AFR][1000 genomes]

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	nsv1028628	chr8:91680968-92418954	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539672	chr8:91680968-92418954	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:91679000-91688000	Weak transcription	Aorta	Aorta
2	chr8:91680600-91689800	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr8:91683800-91688000	Weak transcription	Brain Angular Gyrus	brain
4	chr8:91683800-91688000	Weak transcription	Brain Cingulate Gyrus	brain
5	chr8:91683800-91688000	Weak transcription	Brain Hippocampus Middle	brain
6	chr8:91683800-91688000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr8:91683800-91688000	Weak transcription	Brain Substantia Nigra	brain
8	chr8:91683800-91688000	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr8:91683800-91688400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr8:91683800-91688400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr8:91683800-91688400	Weak transcription	Right Atrium	heart
12	chr8:91683800-91688600	Weak transcription	Fetal Lung	lung
13	chr8:91683800-91691000	Weak transcription	Placenta	Placenta
14	chr8:91683800-91691600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:91684000-91688000	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:91684000-91688000	Weak transcription	Osteobl	bone
17	chr8:91684000-91688200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr8:91684000-91688200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:91684000-91688200	Weak transcription	Brain Anterior Caudate	brain
20	chr8:91684000-91688400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:91684000-91688400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:91684000-91688400	Weak transcription	Fetal Heart	heart
23	chr8:91684000-91688400	Weak transcription	Fetal Stomach	stomach
24	chr8:91684000-91688400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr8:91684000-91688400	Weak transcription	HSMMtube	muscle
26	chr8:91684000-91688400	Weak transcription	NHLF	lung
27	chr8:91684000-91688600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr8:91684000-91688600	Weak transcription	HSMM	muscle
29	chr8:91684200-91687400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr8:91684200-91691800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr8:91684400-91687800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr8:91684400-91687800	Weak transcription	NHDF-Ad	bronchial
33	chr8:91684400-91688000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:91684400-91688400	Weak transcription	NHEK	skin
35	chr8:91685400-91689600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr8:91685600-91687600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr8:91685600-91688200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr8:91685600-91688400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:91685600-91688600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr8:91685800-91687400	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr8:91685800-91687800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:91685800-91688000	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr8:91685800-91688200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr8:91685800-91688600	Weak transcription	Fetal Kidney	kidney
45	chr8:91686200-91688200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr8:91686400-91687600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:91686400-91689800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:91686600-91687400	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr8:91686800-91688000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr8:91686800-91688400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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