Variant report

Variant	rs3791743
Chromosome Location	chr2:114649905-114649906
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	CUX1	chr2:114649560-114650213	K562	blood:	n/a	n/a
2	RUNX3	chr2:114649837-114650302	GM12878	blood:	n/a	n/a
3	POLR2A	chr2:114649887-114650239	GM12892	blood:	n/a	n/a
4	MXI1	chr2:114649371-114650094	K562	blood:	n/a	n/a
5	IRF1	chr2:114648308-114650459	K562	blood:	n/a	chr2:114649730-114649744 chr2:114650045-114650059
6	BHLHE40	chr2:114649601-114650444	GM12878	blood:	n/a	n/a
7	MAZ	chr2:114649790-114650082	K562	blood:	n/a	n/a
8	MYC	chr2:114649610-114650316	K562	blood:	n/a	n/a
9	POLR2A	chr2:114643910-114650805	GM12878	blood:	n/a	n/a
10	GATA1	chr2:114649402-114650388	PBDE	blood:	n/a	chr2:114650146-114650156
11	MYC	chr2:114649661-114650652	K562	blood:	n/a	n/a
12	RCOR1	chr2:114649598-114650536	K562	blood:	n/a	n/a
13	ARID3A	chr2:114649233-114650553	K562	blood:	n/a	chr2:114649413-114649429
14	ZNF384	chr2:114648188-114649905	K562	blood:	n/a	n/a
15	EP300	chr2:114649705-114650571	GM12878	blood:	n/a	n/a
16	EP300	chr2:114649510-114650290	K562	blood:	n/a	n/a
17	JUN	chr2:114646678-114650600	K562	blood:	n/a	chr2:114647000-114647009 chr2:114647383-114647397
18	IRF1	chr2:114648226-114650775	K562	blood:	n/a	chr2:114650473-114650480 chr2:114649730-114649744 chr2:114650045-114650059
19	TBL1XR1	chr2:114648230-114650197	K562	blood:	n/a	n/a
20	TBL1XR1	chr2:114649353-114650279	GM12878	blood:	n/a	n/a
21	CCNT2	chr2:114649480-114650287	K562	blood:	n/a	n/a
22	MAFK	chr2:114649755-114650150	K562	blood:	n/a	n/a
23	JUND	chr2:114649823-114650658	K562	blood:	n/a	n/a
24	GATA2	chr2:114649592-114650360	HUVEC	blood vessel:	n/a	chr2:114650146-114650156 chr2:114650171-114650185
25	POLR2A	chr2:114649785-114650355	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:114649623-114650329	GM12878	blood:	n/a	n/a
27	POLR2A	chr2:114649727-114650106	GM12892	blood:	n/a	n/a
28	TAL1	chr2:114649537-114650475	K562	blood:	n/a	chr2:114650414-114650429 chr2:114650414-114650429
29	POLR2A	chr2:114646920-114650720	K562	blood:	n/a	n/a
30	MAZ	chr2:114649645-114650032	GM12878	blood:	n/a	n/a
31	POLR2A	chr2:114649450-114650872	GM12891	blood:	n/a	n/a
32	POLR2A	chr2:114649884-114650235	GM12891	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:114649589..114651914-chr2:114675375..114678075,2	MCF-7	breast:
2	chr2:114648278..114650934-chr2:114677225..114679132,2	K562	blood:
3	chr2:114647663..114650657-chr2:114707458..114709843,3	K562	blood:
4	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
5	chr2:114647663..114650657-chr2:114707458..114709843,2	K562	blood:
6	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
7	chr2:114648006..114650237-chr2:114689748..114692234,2	K562	blood:
8	chr2:114512680..114516386-chr2:114646106..114650521,15	K562	blood:
9	chr2:114512629..114516386-chr2:114645660..114650521,15	K562	blood:

Variant related genes	Relation type
ENSG00000270019	TF binding region
ENSG00000115091	Chromatin interaction
ENSG00000115084	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:81)

rs_ID	r²[population]
rs10165272	1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[ASN][1000 genomes]
rs10167298	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10177263	0.94[ASN][1000 genomes]
rs10194568	1.00[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs10195630	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10201959	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10202134	0.94[ASN][1000 genomes]
rs10207551	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs10207785	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs10210324	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1022412	0.92[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs11123218	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11887418	0.91[ASN][1000 genomes]
rs11887772	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11889821	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11890727	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11893418	0.94[ASN][1000 genomes]
rs11896388	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11898729	0.85[ASN][1000 genomes]
rs11899049	0.94[CHB][hapmap];0.82[ASN][1000 genomes]
rs12464791	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12466566	0.83[ASN][1000 genomes]
rs12466572	0.93[ASN][1000 genomes]
rs12613877	0.93[ASN][1000 genomes]
rs12618683	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs12711790	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12711794	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13003655	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13387553	0.91[ASN][1000 genomes]
rs13388876	0.85[ASN][1000 genomes]
rs13396086	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13396561	0.90[ASN][1000 genomes]
rs13401311	0.83[ASN][1000 genomes]
rs13405344	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13405706	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13418557	0.90[ASN][1000 genomes]
rs13422248	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1403402	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1467291	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1486800	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1504042	1.00[CHB][hapmap];0.89[JPT][hapmap];0.96[ASN][1000 genomes]
rs17045275	0.85[ASN][1000 genomes]
rs1916201	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1984794	0.84[ASN][1000 genomes]
rs2140263	0.94[CHB][hapmap];0.83[ASN][1000 genomes]
rs2419080	1.00[CHB][hapmap];0.89[JPT][hapmap];0.93[ASN][1000 genomes]
rs28423681	0.83[ASN][1000 genomes]
rs3791737	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3791739	0.96[ASN][1000 genomes]
rs4278937	0.98[ASN][1000 genomes]
rs4338971	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55685338	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs55810358	0.94[ASN][1000 genomes]
rs6542177	0.88[CEU][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6542178	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542181	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6542182	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6542184	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6542186	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6711858	0.96[ASN][1000 genomes]
rs6720853	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs6723415	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6726327	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6729412	0.91[ASN][1000 genomes]
rs6734839	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6738134	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6740934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6743651	1.00[CHB][hapmap];0.89[ASN][1000 genomes]
rs6750503	0.90[ASN][1000 genomes]
rs6760347	0.84[ASN][1000 genomes]
rs6761646	1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs7567097	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7582072	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7585468	0.98[ASN][1000 genomes]
rs7595941	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7603501	1.00[CHB][hapmap];0.89[JPT][hapmap];0.94[ASN][1000 genomes]
rs7603764	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9308686	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs996513	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs996514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114646000-114650000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:114646400-114650000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:114646400-114650000	Active TSS	Psoas Muscle	Psoas
4	chr2:114646400-114650000	Active TSS	HSMM	muscle
5	chr2:114646400-114650200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:114646400-114650800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:114646600-114650000	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr2:114646600-114650000	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr2:114646600-114650000	Active TSS	Right Atrium	heart
10	chr2:114646600-114650000	Active TSS	HMEC	breast
11	chr2:114646600-114650000	Active TSS	K562	blood
12	chr2:114646600-114650200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:114646600-114650200	Active TSS	Right Ventricle	heart
14	chr2:114646600-114651000	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr2:114646800-114650000	Active TSS	Fetal Thymus	thymus
16	chr2:114646800-114650000	Active TSS	Stomach Smooth Muscle	stomach
17	chr2:114646800-114650000	Active TSS	Thymus	Thymus
18	chr2:114646800-114650600	Active TSS	Aorta	Aorta
19	chr2:114646800-114650800	Active TSS	HSMMtube	muscle
20	chr2:114647200-114650800	Active TSS	Primary T cells fromperipheralblood	blood
21	chr2:114648400-114650000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr2:114648400-114650000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:114648600-114651600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:114648600-114651600	Weak transcription	Esophagus	oesophagus
25	chr2:114648600-114651600	Weak transcription	Spleen	Spleen
26	chr2:114648600-114657800	Weak transcription	Gastric	stomach
27	chr2:114648600-114667600	Weak transcription	Lung	lung
28	chr2:114648800-114650200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:114648800-114650200	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr2:114648800-114650200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr2:114648800-114650200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr2:114648800-114651600	Weak transcription	Pancreas	Pancrea
33	chr2:114648800-114653400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr2:114649000-114650000	Weak transcription	Left Ventricle	heart
35	chr2:114649000-114650200	Weak transcription	Stomach Mucosa	stomach
36	chr2:114649000-114650400	Enhancers	Brain Cingulate Gyrus	brain
37	chr2:114649000-114651800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:114649000-114652000	Weak transcription	Ovary	ovary
39	chr2:114649200-114650000	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr2:114649200-114650000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:114649200-114650000	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr2:114649200-114650200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:114649200-114650200	Enhancers	Brain Substantia Nigra	brain
44	chr2:114649200-114650200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr2:114649200-114650400	Enhancers	Fetal Intestine Large	intestine
46	chr2:114649200-114650800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:114649200-114651400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr2:114649200-114651400	Enhancers	Liver	Liver
49	chr2:114649200-114652000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:114649200-114652000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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