Variant report

Variant	rs2513897
Chromosome Location	chr8:103787072-103787073
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103249417..103252086-chr8:103785588..103787097,2	MCF-7	breast:
2	chr8:103786553..103789448-chr8:103790120..103793289,3	K562	blood:
3	chr8:103786553..103789448-chr8:103790011..103792533,3	K562	blood:
4	chr8:103778765..103784253-chr8:103785133..103788553,5	MCF-7	breast:
5	chr8:103664425..103672321-chr8:103786823..103809844,55	MCF-7	breast:
6	chr8:103780128..103782222-chr8:103783334..103787112,5	MCF-7	breast:
7	chr8:103786719..103790690-chr8:103792046..103795484,6	MCF-7	breast:
8	chr8:103656072..103671156-chr8:103783158..103810200,133	MCF-7	breast:
9	chr8:103785972..103788764-chr8:103800319..103802177,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000246263	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000048392	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs2436875	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs2513899	0.85[CHB][hapmap];0.89[JPT][hapmap];0.92[YRI][hapmap];0.85[ASN][1000 genomes]
rs2513901	0.87[ASN][1000 genomes]
rs6984725	0.83[MEX][hapmap]

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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	esv1814245	chr8:103735804-103824566	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv519814	chr8:103778809-103806914	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2513897	TM7SF4	cis	parietal	SCAN
rs2513897	RIMS2	cis	parietal	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103776600-103790600	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr8:103780400-103791600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:103780600-103789000	Weak transcription	Gastric	stomach
4	chr8:103780600-103794800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:103781000-103788400	Weak transcription	Fetal Lung	lung
6	chr8:103781200-103788800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr8:103781200-103788800	Weak transcription	Esophagus	oesophagus
8	chr8:103781600-103793800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:103782600-103789000	Weak transcription	Spleen	Spleen
10	chr8:103782800-103794600	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr8:103783000-103787200	Weak transcription	Liver	Liver
12	chr8:103783000-103787800	Weak transcription	Psoas Muscle	Psoas
13	chr8:103783000-103793800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:103783400-103788600	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:103783600-103788400	Weak transcription	Adipose Nuclei	Adipose
16	chr8:103783600-103788800	Weak transcription	Pancreas	Pancrea
17	chr8:103783800-103788000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr8:103783800-103789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:103784000-103788400	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:103784600-103788400	Enhancers	HepG2	liver
21	chr8:103785400-103787400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:103785400-103789400	Enhancers	Fetal Intestine Small	intestine
23	chr8:103785600-103787200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr8:103785600-103787200	Enhancers	A549	lung
25	chr8:103785600-103787400	Enhancers	Rectal Mucosa Donor 29	rectum
26	chr8:103785600-103787600	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr8:103785600-103787600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr8:103785600-103787600	Enhancers	Left Ventricle	heart
29	chr8:103785600-103789200	Enhancers	Fetal Intestine Large	intestine
30	chr8:103785600-103789200	Enhancers	K562	blood
31	chr8:103785800-103787200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr8:103785800-103787400	Enhancers	Primary B cells from peripheral blood	blood
33	chr8:103785800-103787400	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:103786000-103787400	Enhancers	Primary hematopoietic stem cells	blood
35	chr8:103786200-103788800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr8:103786400-103787200	Enhancers	Fetal Heart	heart
37	chr8:103786400-103787400	Flanking Active TSS	GM12878-XiMat	blood
38	chr8:103786400-103787600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:103786400-103790400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:103786600-103787200	Enhancers	HMEC	breast
41	chr8:103786600-103787600	Enhancers	Right Atrium	heart
42	chr8:103786600-103788400	Enhancers	Primary neutrophils fromperipheralblood	blood
43	chr8:103786800-103787200	Enhancers	Monocytes-CD14+_RO01746	blood
44	chr8:103786800-103788600	Weak transcription	Lung	lung
45	chr8:103786800-103793800	Weak transcription	Aorta	Aorta
46	chr8:103786800-103793800	Weak transcription	Right Ventricle	heart
47	chr8:103786800-103801000	Weak transcription	Small Intestine	intestine
48	chr8:103787000-103787800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr8:103787000-103787800	Weak transcription	Fetal Thymus	thymus
50	chr8:103787000-103788200	Weak transcription	Primary monocytes fromperipheralblood	blood

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