Variant report

Variant	rs17175331
Chromosome Location	chr2:112712870-112712871
allele	C/T
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	EP300	chr2:112712494-112713080	HepG2	liver:	n/a	n/a
2	FOXA1	chr2:112712314-112712904	HepG2	liver:	n/a	n/a
3	FOXA1	chr2:112712319-112712916	HepG2	liver:	n/a	n/a
4	FOXA2	chr2:112712475-112712872	HepG2	liver:	n/a	n/a
5	SP1	chr2:112712467-112712929	HepG2	liver:	n/a	n/a
6	FOXA2	chr2:112712145-112713180	HepG2	liver:	n/a	n/a
7	NFIC	chr2:112712429-112713007	HepG2	liver:	n/a	n/a
8	EP300	chr2:112712459-112713032	HepG2	liver:	n/a	n/a
9	EP300	chr2:112712370-112712981	HepG2	liver:	n/a	n/a
10	MYBL2	chr2:112712457-112712926	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:112712827-112712993	HUVEC	blood vessel:	n/a	n/a
12	NR2F2	chr2:112712330-112713096	HepG2	liver:	n/a	n/a
13	FOXA1	chr2:112712359-112713050	HepG2	liver:	n/a	n/a
14	NFIC	chr2:112712514-112712913	HepG2	liver:	n/a	n/a
15	NR2F2	chr2:112712422-112713050	HepG2	liver:	n/a	n/a
16	FOXA1	chr2:112712365-112712938	HepG2	liver:	n/a	n/a
17	TEAD4	chr2:112712392-112712965	HepG2	liver:	n/a	n/a
18	HDAC2	chr2:112712503-112712878	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000232277	TF binding region

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10199083	0.81[JPT][hapmap]
rs10207726	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1113419	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11884641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11884693	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11887652	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11893308	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11902247	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12466812	0.89[EUR][1000 genomes]
rs12469210	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12470338	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12474039	1.00[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12477716	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs1400321	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs1400324	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1400325	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1516629	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs17174870	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs17175275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17835605	0.95[CEU][hapmap];0.89[EUR][1000 genomes]
rs2001201	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2001444	0.89[EUR][1000 genomes]
rs28377357	0.98[ASN][1000 genomes]
rs3811632	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs3811640	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4278932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4349353	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4434006	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4521048	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4528767	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4848918	0.81[JPT][hapmap]
rs4848978	0.81[CEU][hapmap]
rs55708724	0.89[EUR][1000 genomes]
rs55728465	0.89[EUR][1000 genomes]
rs55766181	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55785997	0.89[EUR][1000 genomes]
rs55792453	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55799805	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55812028	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55972521	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56272510	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57116599	0.83[ASN][1000 genomes]
rs57640566	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57732600	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs58065683	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58641606	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs59650987	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61583444	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6710733	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6712080	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6713344	0.90[CEU][hapmap]
rs6725192	0.81[JPT][hapmap]
rs6729037	0.89[EUR][1000 genomes]
rs6730521	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6737989	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6738237	0.88[EUR][1000 genomes]
rs7563113	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7568632	0.95[CEU][hapmap];0.91[EUR][1000 genomes]
rs7575552	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7578057	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs867311	1.00[CEU][hapmap];0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh 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	48 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	nsv998028	chr2:112649472-112734015	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv582701	chr2:112649472-112740597	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS 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	12 gene(s)	inside rSNPs	diseases
10	nsv526647	chr2:112651316-112738562	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv582702	chr2:112651316-112738562	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:112689200-112734400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr2:112703800-112714800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:112704800-112722800	Weak transcription	Right Ventricle	heart
4	chr2:112705400-112722800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr2:112705600-112722800	Weak transcription	Pancreas	Pancrea
6	chr2:112705600-112724600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:112705600-112730000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:112705800-112714200	Weak transcription	Left Ventricle	heart
9	chr2:112705800-112722800	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr2:112705800-112724400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:112705800-112726600	Weak transcription	Colon Smooth Muscle	Colon
12	chr2:112705800-112741000	Weak transcription	Rectal Mucosa Donor 29	rectum
13	chr2:112706000-112722600	Weak transcription	Lung	lung
14	chr2:112706600-112720400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:112706600-112724400	Weak transcription	Gastric	stomach
16	chr2:112706800-112715600	Weak transcription	Aorta	Aorta
17	chr2:112706800-112725400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:112707000-112715600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:112707000-112722600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:112707000-112722600	Weak transcription	Fetal Kidney	kidney
21	chr2:112707000-112724400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr2:112707400-112725800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:112710400-112715200	Weak transcription	Liver	Liver
24	chr2:112710600-112713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:112711200-112722600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr2:112711800-112713400	Enhancers	Brain Anterior Caudate	brain
27	chr2:112711800-112713400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr2:112711800-112713600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:112711800-112713800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr2:112711800-112722400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:112711800-112722800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr2:112712000-112713200	Enhancers	HUVEC	blood vessel
33	chr2:112712000-112713400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:112712000-112714200	Weak transcription	Adipose Nuclei	Adipose
35	chr2:112712000-112716200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:112712000-112722400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:112712000-112722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr2:112712200-112713000	Enhancers	Ovary	ovary
39	chr2:112712400-112713200	Enhancers	Brain Hippocampus Middle	brain
40	chr2:112712400-112713200	Enhancers	Small Intestine	intestine
41	chr2:112712400-112713400	Enhancers	HepG2	liver
42	chr2:112712400-112720800	Weak transcription	Fetal Intestine Small	intestine
43	chr2:112712600-112713000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr2:112712600-112713000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:112712600-112713000	Enhancers	Duodenum Smooth Muscle	Duodenum
46	chr2:112712600-112713000	Enhancers	Fetal Lung	lung
47	chr2:112712600-112713200	Enhancers	Brain Substantia Nigra	brain
48	chr2:112712600-112713200	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:112712600-112713200	Enhancers	Stomach Smooth Muscle	stomach
50	chr2:112712800-112713200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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