Variant report

Variant	rs8105525
Chromosome Location	chr19:43032866-43032867
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	NFIC	chr19:43032422-43032958	GM12878	blood:	n/a	n/a
2	CTCF	chr19:43032780-43032930	K562	blood:	n/a	n/a
3	CTCF	chr19:43032800-43032950	A549	lung:	n/a	n/a
4	BHLHE40	chr19:43032441-43032956	GM12878	blood:	n/a	n/a
5	POLR2A	chr19:43032502-43032903	HUVEC	blood vessel:	n/a	n/a
6	HEY1	chr19:43032316-43033163	HepG2	liver:	n/a	n/a
7	CEBPB	chr19:43032760-43032960	HepG2	liver:	n/a	n/a
8	ELF1	chr19:43032451-43032914	HepG2	liver:	n/a	n/a
9	ELF1	chr19:43032363-43033854	GM12878	blood:	n/a	n/a
10	STAT1	chr19:43032439-43032905	GM12878	blood:	n/a	chr19:43032738-43032749
11	IKZF1	chr19:43032596-43033043	GM12878	blood:	n/a	n/a
12	ELF1	chr19:43032516-43032884	HepG2	liver:	n/a	n/a
13	RUNX3	chr19:43032504-43032994	GM12878	blood:	n/a	n/a
14	CTCF	chr19:43031752-43034268	A549	lung:	n/a	chr19:43033585-43033603 chr19:43033591-43033600
15	SMC3	chr19:43032574-43032926	HepG2	liver:	n/a	n/a
16	POLR2A	chr19:43032389-43033651	HepG2	liver:	n/a	n/a
17	POLR2A	chr19:43032362-43032894	HepG2	liver:	n/a	n/a
18	POLR2A	chr19:43032363-43033285	HepG2	liver:	n/a	n/a
19	MAZ	chr19:43032467-43032987	GM12878	blood:	n/a	n/a
20	CHD2	chr19:43032516-43033740	GM12878	blood:	n/a	n/a
21	RFX5	chr19:43032499-43033032	GM12878	blood:	n/a	n/a
22	POLR2A	chr19:43032313-43033658	GM12891	blood:	n/a	n/a
23	TBP	chr19:43032437-43032897	HepG2	liver:	n/a	n/a
24	SMC3	chr19:43032420-43033878	GM12878	blood:	n/a	chr19:43032528-43032542
25	EBF1	chr19:43032425-43032962	GM12878	blood:	n/a	chr19:43032641-43032652
26	RAD21	chr19:43032465-43032911	HepG2	liver:	n/a	n/a
27	PML	chr19:43032317-43032894	GM12878	blood:	n/a	chr19:43032359-43032367
28	POLR2A	chr19:43032318-43033643	HepG2	liver:	n/a	n/a
29	RUNX3	chr19:43032562-43033013	GM12878	blood:	n/a	n/a
30	POLR2A	chr19:43032392-43033005	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:43032339-43032903	GM12892	blood:	n/a	n/a
32	POLR2A	chr19:43032168-43033560	HepG2	liver:	n/a	n/a
33	POLR2A	chr19:43032727-43032930	MCF10A-Er-Src	breast:	n/a	n/a
34	WRNIP1	chr19:43032413-43032990	GM12878	blood:	n/a	n/a
35	ARID3A	chr19:43032733-43033111	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
CEACAM1	TF binding region

Extended variants
information (count: 108 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10401178	1.00[CEU][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10401428	1.00[EUR][1000 genomes]
rs10402245	1.00[TSI][hapmap]
rs10402853	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10403065	1.00[EUR][1000 genomes]
rs10404589	1.00[CEU][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405037	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10405152	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs10405179	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10405410	1.00[CEU][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs10405942	1.00[EUR][1000 genomes]
rs10406227	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10408822	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10412074	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10412173	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10412594	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10414396	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10415284	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10416108	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10418090	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10418997	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10419543	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419561	1.00[EUR][1000 genomes]
rs10420773	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10422191	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10423227	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs10423370	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10424206	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes]
rs10425199	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10425666	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10426304	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11878991	1.00[CEU][hapmap]
rs11880554	1.00[ASW][hapmap];1.00[CEU][hapmap];0.92[LWK][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880876	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881583	1.00[CEU][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes]
rs11882225	1.00[EUR][1000 genomes]
rs11882291	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs11882701	0.85[AFR][1000 genomes]
rs11883425	1.00[CEU][hapmap]
rs13343840	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13345272	1.00[EUR][1000 genomes]
rs13345659	1.00[TSI][hapmap]
rs13346522	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16975750	1.00[TSI][hapmap]
rs16975787	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs16975799	0.93[ASW][hapmap];1.00[CEU][hapmap];0.95[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.85[AFR][1000 genomes]
rs16975815	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs16975862	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2051832	1.00[EUR][1000 genomes]
rs2051833	0.83[EUR][1000 genomes]
rs28403155	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs28425201	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs28433890	0.95[AMR][1000 genomes]
rs28473486	1.00[EUR][1000 genomes]
rs28588100	1.00[EUR][1000 genomes]
rs28602626	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28635141	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28660279	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41348545	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41381546	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41421250	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57018456	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs58050143	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs58162305	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs58702905	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60747186	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61388144	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509015	0.93[ASW][hapmap];1.00[CEU][hapmap];0.85[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6509019	0.87[ASW][hapmap];1.00[CEU][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];1.00[EUR][1000 genomes]
rs7245385	1.00[TSI][hapmap]
rs7246161	1.00[CEU][hapmap]
rs7246591	1.00[CEU][hapmap]
rs7247278	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7248907	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7249304	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs7250501	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7251638	1.00[TSI][hapmap]
rs7252874	0.85[AFR][1000 genomes]
rs7253634	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255271	1.00[EUR][1000 genomes]
rs7256226	1.00[EUR][1000 genomes]
rs7256850	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258854	1.00[CEU][hapmap]
rs7259335	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558492	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73558498	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73560408	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8101378	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8104731	0.85[AFR][1000 genomes]
rs8106836	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8107720	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8108992	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8109086	0.90[AFR][1000 genomes]
rs8110904	1.00[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8110922	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8111171	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111468	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs8112593	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8112915	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113154	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8113448	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9749434	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9916999	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs9917002	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
2	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
3	esv2422468	chr19:42991289-43669027	Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1057390	chr19:43003323-43173028	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised 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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:43023600-43033200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:43030400-43033000	Active TSS	Esophagus	oesophagus
3	chr19:43030400-43033000	Active TSS	Sigmoid Colon	Sigmoid Colon
4	chr19:43030400-43033400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
5	chr19:43030400-43033600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr19:43030400-43033600	Active TSS	Rectal Smooth Muscle	rectum
7	chr19:43031000-43033600	Enhancers	Spleen	Spleen
8	chr19:43031200-43033600	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr19:43031400-43033600	Flanking Active TSS	Liver	Liver
10	chr19:43031600-43033600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr19:43031600-43033600	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr19:43031600-43033600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
13	chr19:43031800-43033600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr19:43032000-43033400	Enhancers	Brain Cingulate Gyrus	brain
15	chr19:43032000-43033400	Enhancers	A549	lung
16	chr19:43032000-43033600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr19:43032000-43033600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr19:43032000-43033600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr19:43032000-43033600	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr19:43032000-43033600	Enhancers	Fetal Muscle Leg	muscle
21	chr19:43032000-43033600	Enhancers	Gastric	stomach
22	chr19:43032000-43033800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr19:43032200-43033000	Active TSS	Right Atrium	heart
24	chr19:43032200-43033200	Active TSS	Small Intestine	intestine
25	chr19:43032200-43033400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:43032200-43033400	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr19:43032200-43033600	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr19:43032200-43033600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr19:43032200-43033600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:43032200-43033600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:43032200-43033600	Flanking Active TSS	Fetal Intestine Small	intestine
32	chr19:43032200-43033600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr19:43032200-43033600	Flanking Active TSS	GM12878-XiMat	blood
34	chr19:43032200-43033800	Enhancers	Lung	lung
35	chr19:43032400-43033000	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr19:43032400-43033000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr19:43032400-43033000	Enhancers	Brain Substantia Nigra	brain
38	chr19:43032400-43033200	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr19:43032400-43033200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:43032400-43033200	Active TSS	HepG2	liver
41	chr19:43032400-43033200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr19:43032400-43033200	Flanking Active TSS	NHEK	skin
43	chr19:43032400-43033400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr19:43032400-43033400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr19:43032400-43033400	Enhancers	Pancreas	Pancrea
46	chr19:43032400-43033400	Enhancers	Thymus	Thymus
47	chr19:43032400-43033400	Flanking Active TSS	Dnd41	blood
48	chr19:43032400-43033400	Flanking Active TSS	HMEC	breast
49	chr19:43032400-43033600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:43032400-43033600	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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