Variant report

Variant	rs1473615
Chromosome Location	chr2:183988641-183988642
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	RCOR1	chr2:183988409-183990114	K562	blood:	n/a	n/a
2	NFIC	chr2:183988531-183989791	HepG2	liver:	n/a	n/a
3	ATF3	chr2:183988586-183989641	A549	lung:	n/a	n/a
4	FOS	chr2:183988619-183989194	MCF10A-Er-Src	breast:	n/a	n/a
5	TEAD4	chr2:183988225-183990160	HepG2	liver:	n/a	n/a
6	WRNIP1	chr2:183988501-183989812	GM12878	blood:	n/a	n/a
7	SRF	chr2:183988635-183989566	MCF-7	breast:	n/a	n/a
8	MXI1	chr2:183988509-183990143	K562	blood:	n/a	chr2:183989619-183989628
9	ARID3A	chr2:183988399-183989979	HepG2	liver:	n/a	n/a
10	MAX	chr2:183988617-183990072	HCT-116	colon:	n/a	chr2:183989490-183989506
11	ZNF143	chr2:183988571-183989879	K562	blood:	n/a	n/a
12	POLR2A	chr2:183988323-183989954	HepG2	liver:	n/a	n/a
13	MAFF	chr2:183988429-183989223	HepG2	liver:	n/a	n/a
14	CEBPB	chr2:183988536-183989866	HCT-116	colon:	n/a	chr2:183989080-183989089 chr2:183989080-183989089 chr2:183989078-183989091 chr2:183989080-183989089
15	POLR2A	chr2:183988461-183989941	GM12878	blood:	n/a	n/a
16	GABPA	chr2:183988608-183989853	SK-N-SH	brain:	n/a	n/a
17	SP1	chr2:183988564-183989888	A549	lung:	n/a	n/a
18	ATF1	chr2:183988548-183989798	K562	blood:	n/a	n/a
19	MYBL2	chr2:183988345-183990131	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:183988456-183989689	GM12878	blood:	n/a	chr2:183989080-183989089 chr2:183989080-183989089 chr2:183989078-183989091 chr2:183989080-183989089
21	MXI1	chr2:183988479-183989948	HepG2	liver:	n/a	chr2:183989619-183989628
22	JUND	chr2:183988483-183989255	HepG2	liver:	n/a	n/a
23	MAX	chr2:183988498-183989984	K562	blood:	n/a	chr2:183989490-183989506
24	POLR2A	chr2:183988503-183990008	K562	blood:	n/a	n/a
25	YY1	chr2:183988572-183989771	GM12878	blood:	n/a	chr2:183989033-183989041 chr2:183989022-183989044
26	REST	chr2:183988416-183990120	H1-neurons	neurons:	n/a	n/a
27	BCL3	chr2:183988433-183989951	A549	lung:	n/a	n/a
28	TCF12	chr2:183988572-183990030	A549	lung:	n/a	n/a
29	PML	chr2:183988581-183989985	K562	blood:	n/a	n/a
30	YY1	chr2:183988602-183989787	SK-N-SH_RA	brain:	n/a	chr2:183989033-183989041 chr2:183989022-183989044
31	RELA	chr2:183988478-183989826	GM15510	blood:	n/a	n/a
32	POLR2A	chr2:183988474-183989858	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr2:183988640-183989883	GM12892	blood:	n/a	n/a
34	CREB1	chr2:183988511-183990580	K562	blood:	n/a	n/a
35	MAX	chr2:183988466-183990148	Hela-S3	cervix:	n/a	chr2:183989490-183989506
36	CHD1	chr2:183988627-183989697	GM12878	blood:	n/a	n/a
37	MYC	chr2:183988498-183990114	K562	blood:	n/a	chr2:183989490-183989506
38	SP1	chr2:183988631-183989908	A549	lung:	n/a	n/a
39	POLR2A	chr2:183988598-183989833	Hela-S3	cervix:	n/a	n/a
40	USF2	chr2:183988445-183989864	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr2:183988489-183989779	HCT-116	colon:	n/a	n/a
42	RELA	chr2:183988429-183989968	GM12891	blood:	n/a	n/a
43	CHD1	chr2:183988576-183990426	H1-hESC	embryonic stem cell:	n/a	n/a
44	CEBPB	chr2:183988608-183989891	HCT-116	colon:	n/a	chr2:183989080-183989089 chr2:183989080-183989089 chr2:183989078-183989091 chr2:183989080-183989089
45	MTA3	chr2:183988565-183989987	GM12878	blood:	n/a	n/a
46	MAFF	chr2:183988287-183989341	K562	blood:	n/a	n/a
47	CUX1	chr2:183988630-183989816	K562	blood:	n/a	n/a
48	MAX	chr2:183988416-183989998	HepG2	liver:	n/a	chr2:183989490-183989506
49	GABPA	chr2:183988531-183990085	MCF-7	breast:	n/a	n/a
50	EP300	chr2:183988439-183990042	K562	blood:	n/a	chr2:183989683-183989697 chr2:183989074-183989081

No.	Distal block	Cell Line	Cell type
1	chr2:182755789..182757861-chr2:183988319..183990505,2	K562	blood:
2	chr2:183900414..183906188-chr2:183987961..183990917,10	MCF-7	breast:
3	chr2:183941058..183944169-chr2:183988077..183990587,3	MCF-7	breast:
4	chr2:183977949..183985615-chr2:183986503..183991971,13	K562	blood:
5	chr2:183895298..183904606-chr2:183986062..183992067,16	K562	blood:
6	chr2:183981717..183985228-chr2:183986533..183989454,4	MCF-7	breast:
7	chr2:183897885..183903273-chr2:183986817..183992325,13	K562	blood:
8	chr17:7475914..7477152-chr2:183988526..183989842,3	Hela-S3	cervix:
9	chr2:183902160..183905711-chr2:183988105..183989833,3	MCF-7	breast:

Variant related genes	Relation type
NUP35	TF binding region
ENSG00000138434	Chromatin interaction
ENSG00000161960	Chromatin interaction
ENSG00000260742	Chromatin interaction
ENSG00000162999	Chromatin interaction
ENSG00000061676	Chromatin interaction
ENSG00000163002	Chromatin interaction

Extended variants
information (count: 135 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:126)

rs_ID	r²[population]
rs1473614	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1473616	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1606993	1.00[YRI][hapmap]
rs2675053	1.00[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2675054	1.00[CEU][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2675055	1.00[YRI][hapmap]
rs2675056	0.86[LWK][hapmap];1.00[YRI][hapmap]
rs2705712	0.82[YRI][hapmap]
rs2705713	1.00[YRI][hapmap]
rs2705715	1.00[CEU][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705718	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705719	1.00[CEU][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705720	1.00[CEU][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2705721	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35142583	0.86[EUR][1000 genomes]
rs55657876	1.00[EUR][1000 genomes]
rs55696219	1.00[EUR][1000 genomes]
rs55707150	1.00[EUR][1000 genomes]
rs55764044	1.00[EUR][1000 genomes]
rs55957340	1.00[EUR][1000 genomes]
rs56152140	0.86[EUR][1000 genomes]
rs56182353	0.88[EUR][1000 genomes]
rs6712479	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6722457	1.00[EUR][1000 genomes]
rs6743323	0.88[EUR][1000 genomes]
rs6750392	0.88[EUR][1000 genomes]
rs72886518	0.83[EUR][1000 genomes]
rs72886527	0.86[EUR][1000 genomes]
rs72886538	0.86[EUR][1000 genomes]
rs72886541	0.86[EUR][1000 genomes]
rs72886545	0.86[EUR][1000 genomes]
rs72886547	0.86[EUR][1000 genomes]
rs72886553	0.86[EUR][1000 genomes]
rs72886557	0.86[EUR][1000 genomes]
rs72886568	0.86[EUR][1000 genomes]
rs72886577	0.86[EUR][1000 genomes]
rs72886596	0.86[EUR][1000 genomes]
rs72886600	0.86[EUR][1000 genomes]
rs72888431	0.86[EUR][1000 genomes]
rs72888449	0.86[EUR][1000 genomes]
rs72888452	0.86[EUR][1000 genomes]
rs72888461	0.86[EUR][1000 genomes]
rs72888464	0.86[EUR][1000 genomes]
rs72888472	0.86[EUR][1000 genomes]
rs72888474	0.86[EUR][1000 genomes]
rs72888478	0.86[EUR][1000 genomes]
rs72888481	0.86[EUR][1000 genomes]
rs72888488	0.86[EUR][1000 genomes]
rs72888489	0.86[EUR][1000 genomes]
rs72890307	0.88[EUR][1000 genomes]
rs72890345	0.97[EUR][1000 genomes]
rs72890349	0.90[EUR][1000 genomes]
rs72890352	0.90[EUR][1000 genomes]
rs72890353	0.90[EUR][1000 genomes]
rs72890370	0.94[EUR][1000 genomes]
rs72890384	0.87[EUR][1000 genomes]
rs72890392	0.92[EUR][1000 genomes]
rs72890398	0.92[EUR][1000 genomes]
rs72892604	0.94[EUR][1000 genomes]
rs72892631	0.94[EUR][1000 genomes]
rs72892638	1.00[EUR][1000 genomes]
rs72892656	1.00[EUR][1000 genomes]
rs72892689	1.00[EUR][1000 genomes]
rs72892694	1.00[EUR][1000 genomes]
rs72892702	1.00[EUR][1000 genomes]
rs72894503	1.00[EUR][1000 genomes]
rs72894513	1.00[EUR][1000 genomes]
rs72894523	1.00[EUR][1000 genomes]
rs72894527	1.00[EUR][1000 genomes]
rs72894533	1.00[EUR][1000 genomes]
rs72894535	1.00[EUR][1000 genomes]
rs72894537	1.00[EUR][1000 genomes]
rs72894539	1.00[EUR][1000 genomes]
rs72894544	1.00[EUR][1000 genomes]
rs72894546	1.00[EUR][1000 genomes]
rs72894570	1.00[EUR][1000 genomes]
rs72894585	1.00[EUR][1000 genomes]
rs72894593	1.00[EUR][1000 genomes]
rs72894596	1.00[EUR][1000 genomes]
rs72896508	1.00[EUR][1000 genomes]
rs72896517	1.00[EUR][1000 genomes]
rs72896518	1.00[EUR][1000 genomes]
rs72896520	1.00[EUR][1000 genomes]
rs72896524	1.00[EUR][1000 genomes]
rs72896528	1.00[EUR][1000 genomes]
rs72896534	1.00[EUR][1000 genomes]
rs72896555	1.00[EUR][1000 genomes]
rs72896556	1.00[EUR][1000 genomes]
rs72896558	1.00[EUR][1000 genomes]
rs72896559	1.00[EUR][1000 genomes]
rs72896560	1.00[EUR][1000 genomes]
rs72896567	1.00[EUR][1000 genomes]
rs72896581	1.00[EUR][1000 genomes]
rs72896586	0.97[EUR][1000 genomes]
rs72896598	1.00[EUR][1000 genomes]
rs72898507	1.00[EUR][1000 genomes]
rs72898512	1.00[EUR][1000 genomes]
rs72898513	1.00[EUR][1000 genomes]
rs72898514	1.00[EUR][1000 genomes]
rs72898516	1.00[EUR][1000 genomes]
rs72898517	1.00[EUR][1000 genomes]
rs72898522	1.00[EUR][1000 genomes]
rs72898525	1.00[EUR][1000 genomes]
rs72898529	1.00[EUR][1000 genomes]
rs72898532	1.00[EUR][1000 genomes]
rs72898535	1.00[EUR][1000 genomes]
rs72898538	0.97[EUR][1000 genomes]
rs72898539	1.00[EUR][1000 genomes]
rs72898542	1.00[EUR][1000 genomes]
rs72898545	0.97[EUR][1000 genomes]
rs72898548	1.00[EUR][1000 genomes]
rs72898555	1.00[EUR][1000 genomes]
rs72898558	1.00[EUR][1000 genomes]
rs72898562	0.97[EUR][1000 genomes]
rs72898566	1.00[EUR][1000 genomes]
rs72898569	1.00[EUR][1000 genomes]
rs72898573	1.00[EUR][1000 genomes]
rs72898574	1.00[EUR][1000 genomes]
rs72898578	0.97[EUR][1000 genomes]
rs72898581	1.00[EUR][1000 genomes]
rs72898584	0.86[EUR][1000 genomes]
rs7562034	1.00[EUR][1000 genomes]
rs7565260	1.00[EUR][1000 genomes]
rs7567370	1.00[EUR][1000 genomes]
rs7577407	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7597417	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh 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	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1003519	chr2:183885544-184015868	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	esv3356302	chr2:183962495-183989877	Active TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
9	esv3451815	chr2:183988582-183988785	Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183987800-183989600	Active TSS	Liver	Liver
2	chr2:183987800-183990200	Active TSS	Psoas Muscle	Psoas
3	chr2:183988000-183989800	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr2:183988000-183990400	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:183988200-183988800	Flanking Active TSS	Dnd41	blood
6	chr2:183988200-183988800	Flanking Active TSS	K562	blood
7	chr2:183988200-183989000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr2:183988200-183989600	Active TSS	Brain Cingulate Gyrus	brain
9	chr2:183988200-183989600	Active TSS	Duodenum Mucosa	Duodenum
10	chr2:183988200-183989800	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr2:183988200-183989800	Active TSS	Colon Smooth Muscle	Colon
12	chr2:183988200-183989800	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr2:183988200-183990000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:183988200-183990000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:183988200-183990000	Active TSS	Brain Anterior Caudate	brain
16	chr2:183988200-183990000	Active TSS	Rectal Smooth Muscle	rectum
17	chr2:183988200-183990000	Active TSS	Skeletal Muscle Male	skeletal muscle
18	chr2:183988200-183990000	Active TSS	NHEK	skin
19	chr2:183988200-183990200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:183988200-183990200	Active TSS	Right Atrium	heart
21	chr2:183988200-183990200	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr2:183988200-183990200	Active TSS	HSMMtube	muscle
23	chr2:183988200-183990400	Active TSS	Muscle Satellite Cultured Cells	--
24	chr2:183988200-183990400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:183988200-183990400	Active TSS	Brain Angular Gyrus	brain
26	chr2:183988200-183990400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:183988200-183990400	Active TSS	Fetal Brain Female	brain
28	chr2:183988200-183990400	Active TSS	Fetal Intestine Large	intestine
29	chr2:183988200-183990400	Active TSS	Fetal Stomach	stomach
30	chr2:183988200-183990400	Active TSS	HMEC	breast
31	chr2:183988200-183990400	Active TSS	NH-A	brain
32	chr2:183988200-183990600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:183988200-183990600	Active TSS	Ovary	ovary
34	chr2:183988200-183990600	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr2:183988200-183990600	Active TSS	Stomach Smooth Muscle	stomach
36	chr2:183988200-183990600	Active TSS	NHDF-Ad	bronchial
37	chr2:183988200-183990800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:183988200-183991000	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr2:183988200-183991000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:183988400-183988800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
41	chr2:183988400-183988800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:183988400-183988800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:183988400-183988800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr2:183988400-183988800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
45	chr2:183988400-183988800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr2:183988400-183988800	Flanking Active TSS	Primary B cells from peripheral blood	blood
47	chr2:183988400-183988800	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr2:183988400-183988800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr2:183988400-183988800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr2:183988400-183988800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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