Variant report

Variant	rs297152
Chromosome Location	chr2:39326734-39326735
allele	G/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	CEBPB	chr2:39326355-39326946	A549	lung:	n/a	chr2:39326648-39326659
2	CEBPB	chr2:39326468-39326837	HepG2	liver:	n/a	chr2:39326648-39326659
3	CEBPB	chr2:39326463-39326838	IMR90	lung:	n/a	chr2:39326648-39326659
4	CEBPB	chr2:39326430-39326823	MCF-7	breast:	n/a	chr2:39326648-39326659
5	POLR2A	chr2:39326612-39326761	K562	blood:	n/a	n/a
6	CEBPB	chr2:39326465-39326825	Hela-S3	cervix:	n/a	chr2:39326648-39326659
7	CEBPB	chr2:39326525-39326801	H1-hESC	embryonic stem cell:	n/a	chr2:39326648-39326659
8	CEBPB	chr2:39326464-39326844	K562	blood:	n/a	chr2:39326648-39326659
9	CEBPB	chr2:39326463-39326837	A549	lung:	n/a	chr2:39326648-39326659
10	CEBPB	chr2:39326434-39326796	K562	blood:	n/a	chr2:39326648-39326659
11	CEBPB	chr2:39326392-39326793	A549	lung:	n/a	chr2:39326648-39326659
12	CEBPB	chr2:39326525-39326888	MCF-7	breast:	n/a	chr2:39326648-39326659

Variant related genes	Relation type
HSPE1P13	TF binding region

Extended variants
information (count: 150 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:135)

rs_ID	r²[population]
rs10153761	0.84[EUR][1000 genomes]
rs10165968	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10166395	0.88[CEU][hapmap]
rs10166801	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10169337	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10172714	0.87[CEU][hapmap]
rs10177250	0.88[CEU][hapmap];0.86[CHB][hapmap];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10184015	0.87[EUR][1000 genomes]
rs10186762	0.87[CEU][hapmap]
rs10190377	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes]
rs10192250	0.87[CEU][hapmap]
rs10194374	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10200058	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10201980	0.87[CEU][hapmap]
rs10205802	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs10206751	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1037495	0.88[CEU][hapmap];0.93[CHB][hapmap];0.83[JPT][hapmap]
rs1043793	0.88[CEU][hapmap]
rs10439459	0.84[EUR][1000 genomes]
rs11124659	0.84[EUR][1000 genomes]
rs11124660	0.85[EUR][1000 genomes]
rs11674846	0.82[ASN][1000 genomes]
rs11691035	0.82[ASN][1000 genomes]
rs11692687	0.84[EUR][1000 genomes]
rs12471731	0.88[CEU][hapmap]
rs12620003	0.82[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12620071	0.87[EUR][1000 genomes]
rs12622969	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13031871	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs13033392	0.92[EUR][1000 genomes]
rs1377860	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs1377861	0.87[EUR][1000 genomes]
rs1377863	0.80[EUR][1000 genomes]
rs1377864	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[EUR][1000 genomes]
rs1454219	0.80[ASN][1000 genomes]
rs1454222	0.87[CEU][hapmap]
rs1454223	0.87[CEU][hapmap]
rs1454226	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs1454227	0.93[EUR][1000 genomes]
rs1470914	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[EUR][1000 genomes]
rs1470915	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs1869513	0.87[CEU][hapmap]
rs2060988	1.00[CHB][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2060989	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs212322	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2123876	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs2123879	0.80[EUR][1000 genomes]
rs2123881	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs2123882	0.89[EUR][1000 genomes]
rs2168042	0.86[CHB][hapmap]
rs2168043	0.93[CHB][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs2278914	0.87[CEU][hapmap]
rs2290445	0.87[CEU][hapmap]
rs2305516	0.87[CEU][hapmap]
rs2373474	0.82[EUR][1000 genomes]
rs2373495	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs2373496	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs2373497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2888585	0.87[CEU][hapmap];0.86[CHB][hapmap];0.84[EUR][1000 genomes]
rs2924714	0.87[EUR][1000 genomes]
rs2969763	0.87[EUR][1000 genomes]
rs297120	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs297121	0.87[EUR][1000 genomes]
rs297124	0.88[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs297125	0.87[EUR][1000 genomes]
rs297127	0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs297128	0.87[EUR][1000 genomes]
rs297129	0.87[EUR][1000 genomes]
rs297130	0.87[EUR][1000 genomes]
rs297131	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs297132	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs297133	0.87[EUR][1000 genomes]
rs297134	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs297135	0.87[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs297136	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs297137	0.87[EUR][1000 genomes]
rs297139	0.87[EUR][1000 genomes]
rs297140	0.87[EUR][1000 genomes]
rs297141	0.87[EUR][1000 genomes]
rs297142	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs297143	0.87[EUR][1000 genomes]
rs297144	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs297145	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs297147	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs297148	0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs297149	0.87[CEU][hapmap];0.85[CHB][hapmap];0.87[EUR][1000 genomes]
rs297150	0.87[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs297151	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs297153	0.87[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs297155	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs297156	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs297157	0.87[EUR][1000 genomes]
rs297158	0.85[EUR][1000 genomes]
rs297159	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs297160	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[JPT][hapmap]
rs297161	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs297162	0.82[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs366840	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3765058	0.87[CEU][hapmap]
rs378698	0.87[CEU][hapmap];0.86[CHB][hapmap];0.87[EUR][1000 genomes]
rs3796038	0.88[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[EUR][1000 genomes]
rs388958	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4142729	0.87[CEU][hapmap]
rs422854	0.87[CEU][hapmap]
rs4670269	0.82[JPT][hapmap]
rs4670272	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs4670902	0.88[CEU][hapmap];0.92[CHB][hapmap];0.90[JPT][hapmap]
rs4670903	0.87[CEU][hapmap]
rs4670905	0.87[EUR][1000 genomes]
rs57378308	0.85[EUR][1000 genomes]
rs58645871	0.80[EUR][1000 genomes]
rs59732351	0.85[EUR][1000 genomes]
rs61405040	0.87[EUR][1000 genomes]
rs6419600	0.87[CEU][hapmap];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6544183	0.87[CEU][hapmap]
rs6544185	0.87[CEU][hapmap]
rs6544191	0.87[EUR][1000 genomes]
rs6544197	0.87[CEU][hapmap];0.82[CHB][hapmap];0.87[EUR][1000 genomes]
rs6704656	0.87[CEU][hapmap]
rs6713281	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs6716101	0.87[CEU][hapmap]
rs6725356	0.82[EUR][1000 genomes]
rs6725644	0.82[EUR][1000 genomes]
rs6726833	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6739807	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6756184	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs6758330	0.93[CHB][hapmap];0.94[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72909662	0.85[EUR][1000 genomes]
rs7571052	0.87[CEU][hapmap]
rs7577088	0.87[CEU][hapmap]
rs7604229	0.83[ASN][1000 genomes]
rs7607509	0.93[CHB][hapmap];0.94[JPT][hapmap];0.83[ASN][1000 genomes]
rs963730	0.88[CEU][hapmap]
rs9679498	0.87[CEU][hapmap]
rs970409	0.87[EUR][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	nsv873884	chr2:39154463-39332093	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking 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	12 gene(s)	inside rSNPs	diseases
2	esv2755359	chr2:39169049-39417849	Strong transcription Enhancers ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
5	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv1008198	chr2:39271472-39364035	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
11	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	nsv581495	chr2:39282079-39475205	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs297152	SOS1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39235600-39327800	Weak transcription	Esophagus	oesophagus
2	chr2:39251600-39327200	Weak transcription	HUVEC	blood vessel
3	chr2:39261000-39327800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:39280800-39334200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr2:39282600-39327400	Weak transcription	Hela-S3	cervix
6	chr2:39293800-39339400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr2:39294000-39345200	Weak transcription	Fetal Kidney	kidney
8	chr2:39294600-39339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:39296400-39339400	Weak transcription	Aorta	Aorta
10	chr2:39307600-39333800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:39315200-39326800	Weak transcription	Psoas Muscle	Psoas
12	chr2:39319000-39333800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:39319600-39327800	Weak transcription	Lung	lung
14	chr2:39319600-39328200	Weak transcription	Right Atrium	heart
15	chr2:39319600-39339600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:39319800-39333800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:39319800-39343200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:39321000-39326800	Weak transcription	Left Ventricle	heart
19	chr2:39321000-39327600	Weak transcription	Stomach Mucosa	stomach
20	chr2:39321000-39334200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:39321000-39334200	Weak transcription	Liver	Liver
22	chr2:39321000-39338600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr2:39321000-39344600	Weak transcription	Gastric	stomach
24	chr2:39321200-39331000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:39321200-39333800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr2:39321600-39326800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:39321800-39332400	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr2:39322400-39345200	Weak transcription	Osteobl	bone
29	chr2:39322600-39332400	Weak transcription	Fetal Intestine Small	intestine
30	chr2:39322600-39344400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr2:39322800-39326800	Weak transcription	Primary B cells from peripheral blood	blood
32	chr2:39322800-39326800	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:39322800-39326800	Weak transcription	Thymus	Thymus
34	chr2:39322800-39327400	Weak transcription	Adipose Nuclei	Adipose
35	chr2:39322800-39328000	Weak transcription	Primary B cells from cord blood	blood
36	chr2:39322800-39329400	Weak transcription	Spleen	Spleen
37	chr2:39322800-39333800	Weak transcription	HSMM	muscle
38	chr2:39322800-39334200	Weak transcription	Fetal Muscle Leg	muscle
39	chr2:39322800-39334200	Weak transcription	NHLF	lung
40	chr2:39322800-39334400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:39322800-39334400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr2:39322800-39334400	Weak transcription	K562	blood
43	chr2:39322800-39339200	Weak transcription	Fetal Thymus	thymus
44	chr2:39322800-39345200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr2:39323000-39327600	Weak transcription	NHDF-Ad	bronchial
46	chr2:39323000-39331400	Weak transcription	HepG2	liver
47	chr2:39323000-39334000	Weak transcription	Fetal Lung	lung
48	chr2:39323000-39334400	Weak transcription	Fetal Stomach	stomach
49	chr2:39323000-39339000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr2:39323000-39339400	Weak transcription	Primary hematopoietic stem cells	blood

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