Variant report

Variant	rs10180963
Chromosome Location	chr2:145203512-145203513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:145203443-145204129	K562	blood:	n/a	n/a
2	POLR2A	chr2:145203442-145204231	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr2:145200918-145204125	K562	blood:	n/a	n/a
4	CEBPB	chr2:145203388-145203729	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145202502..145204314-chr2:145213044..145215998,2	K562	blood:

Variant related genes	Relation type
ENSG00000213410	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10172508	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs10179303	0.84[AMR][1000 genomes]
rs11893047	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs17677410	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs62169209	0.86[AMR][1000 genomes]
rs62169219	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription 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	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription 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	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv535955	chr2:145143961-145298714	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
16	nsv535956	chr2:145178224-145311097	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
17	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	nsv535958	chr2:145190081-145285400	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145157800-145206200	Weak transcription	Lung	lung
2	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:145179000-145210200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:145189200-145206600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:145190800-145205200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:145190800-145206200	Enhancers	Brain Substantia Nigra	brain
7	chr2:145194800-145210600	Weak transcription	Gastric	stomach
8	chr2:145196000-145204000	Enhancers	Brain Anterior Caudate	brain
9	chr2:145196200-145204000	Enhancers	Brain Cingulate Gyrus	brain
10	chr2:145197000-145212400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:145198800-145206400	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:145199000-145203800	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr2:145199000-145203800	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:145199000-145205200	Weak transcription	Left Ventricle	heart
15	chr2:145199000-145205200	Weak transcription	Psoas Muscle	Psoas
16	chr2:145199000-145205200	Weak transcription	Right Ventricle	heart
17	chr2:145199000-145206200	Weak transcription	Placenta	Placenta
18	chr2:145199000-145207800	Genic enhancers	Monocytes-CD14+_RO01746	blood
19	chr2:145199000-145209800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr2:145199600-145206000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr2:145199600-145206000	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:145199800-145209600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr2:145200200-145207600	Genic enhancers	Primary monocytes fromperipheralblood	blood
24	chr2:145201000-145203600	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr2:145201000-145204000	Enhancers	Brain Angular Gyrus	brain
26	chr2:145201000-145204000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:145201000-145204200	Genic enhancers	Fetal Lung	lung
28	chr2:145201400-145203600	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr2:145201400-145203800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:145201600-145203600	Weak transcription	Right Atrium	heart
31	chr2:145201800-145203800	Enhancers	NHLF	lung
32	chr2:145201800-145204000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr2:145201800-145204000	Strong transcription	Primary B cells from cord blood	blood
34	chr2:145201800-145209600	Weak transcription	A549	lung
35	chr2:145202000-145204400	Enhancers	Ovary	ovary
36	chr2:145202000-145205000	Weak transcription	Fetal Heart	heart
37	chr2:145202000-145209800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:145202200-145203600	Enhancers	Brain Hippocampus Middle	brain
39	chr2:145202200-145203800	Weak transcription	Adipose Nuclei	Adipose
40	chr2:145202200-145204200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr2:145202200-145206000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr2:145202200-145206400	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr2:145202200-145209800	Weak transcription	Osteobl	bone
44	chr2:145202400-145203600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:145202400-145203600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:145202400-145203800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr2:145202400-145204000	Strong transcription	HSMM	muscle
48	chr2:145202400-145204400	Strong transcription	HSMMtube	muscle
49	chr2:145202400-145205800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:145202400-145206400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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