Variant report

Variant	rs6710189
Chromosome Location	chr2:112789792-112789793
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:112779447..112781185-chr2:112788377..112790011,2	MCF-7	breast:
2	chr2:112786053..112788875-chr2:112788955..112792026,3	K562	blood:
3	chr2:112654547..112656932-chr2:112789072..112792767,3	MCF-7	breast:
4	chr2:112782602..112784298-chr2:112789398..112791163,2	K562	blood:

Variant related genes	Relation type
ENSG00000153208	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs34132287	0.95[ASN][1000 genomes]
rs34589210	0.95[ASN][1000 genomes]
rs34853608	0.95[ASN][1000 genomes]
rs34889979	0.95[ASN][1000 genomes]
rs35049941	0.95[ASN][1000 genomes]
rs35671911	0.95[ASN][1000 genomes]
rs4848982	0.89[ASN][1000 genomes]
rs57706057	0.89[ASN][1000 genomes]
rs58122407	0.89[ASN][1000 genomes]
rs58182983	0.89[ASN][1000 genomes]
rs58552130	0.89[ASN][1000 genomes]
rs59667312	0.89[ASN][1000 genomes]
rs62157782	0.95[ASN][1000 genomes]
rs62157784	0.84[ASN][1000 genomes]
rs62157785	0.89[ASN][1000 genomes]
rs62157786	0.89[ASN][1000 genomes]
rs62157789	0.89[ASN][1000 genomes]
rs62157795	0.89[ASN][1000 genomes]
rs6727484	0.89[ASN][1000 genomes]
rs6728297	0.95[ASN][1000 genomes]
rs7567461	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised 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	57 gene(s)	inside rSNPs	diseases
2	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
4	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	esv3333591	chr2:112669320-112892618	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002027	chr2:112679182-112861534	Weak transcription Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1014787	chr2:112679182-112908416	Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv535893	chr2:112679182-112908416	Strong transcription ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
9	nsv999746	chr2:112691270-112796083	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1003129	chr2:112691270-112816694	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	esv2760607	chr2:112691282-112803423	Weak transcription Genic enhancers Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
12	nsv431491	chr2:112699350-112793981	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv515698	chr2:112699350-112795908	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv933392	chr2:112747230-112792349	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
15	esv1793068	chr2:112784234-112816694	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6710189	FBLN7	cis	parietal	SCAN
rs6710189	RANBP2	cis	parietal	SCAN

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112713200-112790600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr2:112769600-112791200	Weak transcription	Colonic Mucosa	Colon
3	chr2:112774400-112790200	Weak transcription	Right Atrium	heart
4	chr2:112780200-112789800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr2:112781600-112790600	Weak transcription	Lung	lung
6	chr2:112783000-112790600	Weak transcription	Pancreas	Pancrea
7	chr2:112783200-112790000	Weak transcription	Spleen	Spleen
8	chr2:112783200-112790600	Weak transcription	Esophagus	oesophagus
9	chr2:112783200-112802200	Weak transcription	Aorta	Aorta
10	chr2:112786200-112790600	Weak transcription	Left Ventricle	heart
11	chr2:112786200-112790600	Weak transcription	Stomach Mucosa	stomach
12	chr2:112786200-112798800	Weak transcription	K562	blood
13	chr2:112786400-112790600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:112786400-112796000	Weak transcription	Gastric	stomach
15	chr2:112788200-112790000	Enhancers	Fetal Muscle Trunk	muscle
16	chr2:112788200-112790200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:112788800-112789800	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr2:112788800-112790000	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr2:112789000-112789800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:112789000-112790000	Enhancers	Brain Cingulate Gyrus	brain
21	chr2:112789000-112790200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr2:112789000-112790200	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr2:112789000-112790200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:112789000-112790800	Enhancers	Fetal Intestine Small	intestine
25	chr2:112789000-112790800	Enhancers	Small Intestine	intestine
26	chr2:112789000-112791000	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:112789000-112791400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:112789000-112791400	Enhancers	Fetal Intestine Large	intestine
29	chr2:112789000-112791600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:112789000-112792000	Enhancers	Duodenum Mucosa	Duodenum
31	chr2:112789000-112792000	Enhancers	HUVEC	blood vessel
32	chr2:112789000-112792600	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr2:112789000-112792600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:112789200-112789800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:112789200-112789800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:112789200-112789800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr2:112789200-112789800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:112789200-112789800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:112789200-112789800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:112789200-112789800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr2:112789200-112789800	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr2:112789200-112789800	Flanking Active TSS	Fetal Lung	lung
43	chr2:112789200-112789800	Flanking Active TSS	Osteobl	bone
44	chr2:112789200-112790000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr2:112789200-112790000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr2:112789200-112790000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:112789200-112790000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:112789200-112790000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:112789200-112790000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr2:112789200-112790000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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