Variant report

Variant	rs2030782
Chromosome Location	chr8:102615171-102615172
allele	C/T
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:102613840..102615756-chr8:102643274..102644834,2	MCF-7	breast:
2	chr8:102588119..102597900-chr8:102614552..102624670,18	MCF-7	breast:
3	chr8:102478978..102481456-chr8:102614668..102616210,2	MCF-7	breast:
4	chr14:105285718..105288102-chr8:102614917..102617459,2	MCF-7	breast:
5	chr8:102342594..102345253-chr8:102614500..102617128,2	MCF-7	breast:
6	chr8:102614548..102616839-chr8:102636990..102639158,2	K562	blood:
7	chr8:102497120..102519676-chr8:102608888..102627613,87	MCF-7	breast:
8	chr8:102594059..102599317-chr8:102614223..102621570,11	MCF-7	breast:
9	chr8:102503101..102510814-chr8:102611042..102623761,44	MCF-7	breast:
10	chr8:102446688..102449567-chr8:102612575..102615399,2	MCF-7	breast:
11	chr8:102514177..102518015-chr8:102614637..102617886,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000258701	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000254024	Chromatin interaction

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

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

rs_ID	r²[population]
rs4734542	0.87[AMR][1000 genomes]
rs4734547	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734563	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757285	chr8:102609474-102649681	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	esv2759635	chr8:102609474-102649681	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	esv2761235	chr8:102613079-102646059	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	esv3359607	chr8:102614771-102615348	Enhancers Genic enhancers Weak transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102552200-102620600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:102590600-102631600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:102590600-102635200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr8:102597400-102616000	Weak transcription	Gastric	stomach
5	chr8:102597400-102620600	Weak transcription	Colonic Mucosa	Colon
6	chr8:102600600-102619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:102601600-102616200	Weak transcription	Fetal Kidney	kidney
8	chr8:102607000-102616600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:102607800-102617000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:102609200-102616000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr8:102611600-102617200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr8:102612800-102615800	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr8:102612800-102616600	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr8:102612800-102617000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr8:102612800-102617600	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr8:102612800-102623000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr8:102613000-102615800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:102613000-102615800	Weak transcription	Fetal Intestine Large	intestine
19	chr8:102613000-102616000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:102613000-102617000	Enhancers	Placenta Amnion	Placenta Amnion
21	chr8:102613000-102618800	Weak transcription	Pancreas	Pancrea
22	chr8:102613200-102615800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:102613200-102615800	Weak transcription	Fetal Intestine Small	intestine
24	chr8:102613200-102616000	Weak transcription	Fetal Stomach	stomach
25	chr8:102613200-102616000	Weak transcription	Osteobl	bone
26	chr8:102613200-102616200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr8:102613200-102617200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:102613600-102615200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr8:102613800-102616000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr8:102614400-102615200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:102614400-102616600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr8:102614400-102617800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr8:102614600-102615200	Enhancers	Adipose Nuclei	Adipose
34	chr8:102614600-102615200	Enhancers	Fetal Lung	lung
35	chr8:102614600-102615200	Enhancers	Placenta	Placenta
36	chr8:102614600-102615400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:102614600-102615400	Enhancers	Aorta	Aorta
38	chr8:102614600-102616000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr8:102614600-102616000	Enhancers	NHEK	skin
40	chr8:102614600-102616200	Enhancers	Left Ventricle	heart
41	chr8:102614800-102615200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:102614800-102615200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr8:102614800-102617000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:102614800-102619000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr8:102614800-102619000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:102615000-102615200	Genic enhancers	Esophagus	oesophagus
47	chr8:102615000-102615200	Enhancers	Fetal Brain Male	brain
48	chr8:102615000-102615200	Enhancers	Lung	lung
49	chr8:102615000-102615200	Enhancers	NHDF-Ad	bronchial
50	chr8:102615000-102615400	Enhancers	Cortex derived primary cultured neurospheres	brain

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