Variant report

Variant	rs1206029
Chromosome Location	chr19:42854001-42854002
allele	A/C
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	NR2F2	chr19:42853768-42854348	MCF-7	breast:	n/a	n/a
2	NR2F2	chr19:42853871-42854215	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42846351..42848638-chr19:42851979..42854844,2	K562	blood:
2	chr19:42853692..42856460-chr19:42858026..42859933,2	K562	blood:

Variant related genes	Relation type
MEGF8	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10410185	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.84[EUR][1000 genomes]
rs10410198	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap]
rs10410698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap]
rs10412833	0.87[EUR][1000 genomes]
rs11878620	0.82[CHB][hapmap];0.80[MEX][hapmap]
rs11880124	0.82[CHB][hapmap]
rs11883412	0.82[CHB][hapmap]
rs1206009	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs1206027	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206028	0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1206031	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1206033	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.94[TSI][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1206035	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206036	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs1206038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1206040	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206041	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206042	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1206043	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1206044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1209280	0.85[EUR][1000 genomes]
rs1211265	0.85[EUR][1000 genomes]
rs13346991	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1613100	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1654623	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1654624	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs1676211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1676213	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1676214	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1676215	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1676217	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs1676220	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1676221	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1676222	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1685564	0.87[YRI][hapmap]
rs1685565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16975684	0.82[CHB][hapmap]
rs2267630	1.00[CHB][hapmap]
rs2302485	0.82[CHB][hapmap];0.80[MEX][hapmap]
rs2303652	0.82[CHB][hapmap]
rs2537697	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap];0.81[EUR][1000 genomes]
rs2615614	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs2615615	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs28621009	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34922891	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35557987	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3745231	0.82[CHB][hapmap]
rs3745233	0.82[CHB][hapmap]
rs3810148	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs3810151	0.82[CHB][hapmap]
rs4141062	1.00[CHB][hapmap];0.80[MEX][hapmap]
rs61995685	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7248379	0.82[CHB][hapmap]
rs7255956	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7260287	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73552895	0.89[EUR][1000 genomes]
rs741070	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs8182491	0.82[CHB][hapmap]
rs851292	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851293	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs851294	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs851295	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs851296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs851614	0.82[ASW][hapmap];0.87[YRI][hapmap]
rs851615	0.89[EUR][1000 genomes]
rs862228	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865436	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9636121	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.94[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42830800-42856400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:42830800-42867200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:42830800-42867600	Weak transcription	Fetal Kidney	kidney
4	chr19:42830800-42879200	Weak transcription	Small Intestine	intestine
5	chr19:42830800-42884200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr19:42831000-42856200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:42831000-42860600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr19:42831000-42874400	Weak transcription	HSMM	muscle
9	chr19:42831200-42856600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:42831200-42856800	Weak transcription	Fetal Thymus	thymus
11	chr19:42831400-42867400	Weak transcription	Fetal Heart	heart
12	chr19:42831400-42867400	Weak transcription	NHEK	skin
13	chr19:42831600-42856400	Weak transcription	HMEC	breast
14	chr19:42831600-42856600	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr19:42831600-42861800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:42831600-42882600	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr19:42831800-42873800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr19:42831800-42874800	Weak transcription	K562	blood
19	chr19:42833400-42867400	Weak transcription	GM12878-XiMat	blood
20	chr19:42835400-42867400	Strong transcription	Fetal Stomach	stomach
21	chr19:42836600-42861000	Weak transcription	Psoas Muscle	Psoas
22	chr19:42839800-42866800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr19:42841000-42858200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr19:42841000-42867600	Weak transcription	Osteobl	bone
25	chr19:42841200-42858400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:42841200-42859600	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr19:42841400-42855400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr19:42841400-42855800	Weak transcription	Brain Substantia Nigra	brain
29	chr19:42841400-42859800	Weak transcription	NHLF	lung
30	chr19:42841400-42861000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr19:42841400-42865000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr19:42841600-42855400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr19:42841600-42857400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:42841600-42860200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr19:42841600-42860400	Weak transcription	A549	lung
36	chr19:42841600-42867800	Weak transcription	HepG2	liver
37	chr19:42841800-42860600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr19:42843400-42867800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr19:42844000-42861800	Strong transcription	Fetal Intestine Small	intestine
40	chr19:42844000-42867200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:42844200-42856000	Strong transcription	Brain Germinal Matrix	brain
42	chr19:42844800-42877400	Weak transcription	Stomach Mucosa	stomach
43	chr19:42846600-42855800	Weak transcription	Thymus	Thymus
44	chr19:42846800-42858400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr19:42847200-42856800	Weak transcription	HSMMtube	muscle
46	chr19:42848600-42856200	Weak transcription	Dnd41	blood
47	chr19:42849000-42855400	Weak transcription	Colonic Mucosa	Colon
48	chr19:42849000-42856400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr19:42849200-42855400	Weak transcription	Left Ventricle	heart
50	chr19:42849400-42856800	Weak transcription	Duodenum Mucosa	Duodenum

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