Variant report

Variant	rs1869424
Chromosome Location	chr2:30834985-30834986
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:30833195..30835314-chr2:30840364..30842718,2	K562	blood:
2	chr2:30669895..30671800-chr2:30834576..30837121,2	K562	blood:

Variant related genes	Relation type
ENSG00000172954	Chromatin interaction

Extended variants
information (count: 133 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:129)

rs_ID	r²[population]
rs10167083	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10175399	0.93[CEU][hapmap]
rs10183928	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10865520	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1096109	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11127278	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12053428	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12468064	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1252625	0.93[CEU][hapmap]
rs1252631	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252640	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1252646	0.93[CEU][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap]
rs1252651	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs1252654	1.00[CHB][hapmap]
rs1447186	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1447187	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470533	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470534	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1470536	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1525062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1869423	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869429	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1975555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2121600	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2123753	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2177698	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2266377	0.85[EUR][1000 genomes]
rs2593440	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593443	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593448	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2593452	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2593455	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2593458	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593459	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2593460	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593461	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593462	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593464	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593465	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593466	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2593474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602767	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602780	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2602782	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602783	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602784	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602785	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602786	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602789	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602790	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602791	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602792	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2602798	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602799	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2602806	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2602807	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2602808	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609917	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609924	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609925	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609926	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609943	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609945	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2609950	0.92[EUR][1000 genomes]
rs2609952	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609955	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609956	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2609958	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3862977	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4952147	0.93[CEU][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap]
rs6731031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6740440	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.92[TSI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759011	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7566983	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7572318	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7583211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7592355	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605994	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7606200	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs829563	1.00[CEU][hapmap];0.85[CHB][hapmap]
rs829564	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs829565	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs829574	0.86[CEU][hapmap]
rs829575	0.93[CEU][hapmap];0.94[GIH][hapmap];0.84[TSI][hapmap]
rs829582	0.86[CEU][hapmap]
rs829616	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829617	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829618	0.93[CEU][hapmap];0.97[GIH][hapmap];0.89[TSI][hapmap]
rs829619	0.86[CEU][hapmap]
rs829620	0.86[CEU][hapmap]
rs829622	0.93[CEU][hapmap]
rs829629	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs829630	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829631	0.86[CEU][hapmap]
rs829632	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829634	0.93[CEU][hapmap]
rs829635	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829637	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829641	0.93[CEU][hapmap];0.97[GIH][hapmap];0.84[TSI][hapmap]
rs829642	0.86[CEU][hapmap];0.97[GIH][hapmap];0.85[TSI][hapmap]
rs829646	0.86[CEU][hapmap];0.95[GIH][hapmap];0.81[TSI][hapmap]
rs829653	1.00[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs829654	0.93[CEU][hapmap]
rs829655	0.85[CEU][hapmap]
rs829659	0.86[CEU][hapmap];0.97[GIH][hapmap];0.81[TSI][hapmap]
rs829660	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829661	0.86[CEU][hapmap]
rs829664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.85[MEX][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs829669	0.93[CEU][hapmap]
rs829671	0.86[CEU][hapmap]
rs829672	0.86[CEU][hapmap]
rs829673	0.85[CEU][hapmap]
rs829675	0.86[CEU][hapmap]
rs829677	0.93[CEU][hapmap]
rs829679	0.93[CEU][hapmap]
rs829680	0.86[CEU][hapmap]
rs829681	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs829682	0.91[CEU][hapmap]
rs829684	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs829695	0.85[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs829696	0.85[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[GIH][hapmap];0.82[JPT][hapmap];0.92[TSI][hapmap]
rs829699	1.00[CHB][hapmap];0.90[CHD][hapmap];0.82[JPT][hapmap]
rs844194	0.93[CEU][hapmap]
rs860487	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs866680	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap]
rs895662	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs895665	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv533886	chr2:30130019-31068764	ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv1826356	chr2:30809843-30841108	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1003432	chr2:30814986-30849343	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv2762445	chr2:30814998-30849343	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1869424	TMEM214	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:30758600-30853800	Weak transcription	Thymus	Thymus
2	chr2:30792600-30863000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:30792800-30851400	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:30798400-30839600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:30808200-30844600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr2:30811600-30863000	Weak transcription	Ovary	ovary
7	chr2:30818800-30835000	Weak transcription	Primary B cells from cord blood	blood
8	chr2:30823000-30835400	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:30824000-30835400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:30825800-30844200	Weak transcription	Fetal Thymus	thymus
11	chr2:30826400-30835600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:30828400-30836200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr2:30828800-30835800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:30828800-30837600	Weak transcription	Primary T cells from cord blood	blood
15	chr2:30831000-30844800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr2:30831600-30844800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr2:30831600-30852800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:30831800-30863000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:30832000-30835600	Weak transcription	A549	lung
20	chr2:30832000-30848600	Weak transcription	K562	blood
21	chr2:30832800-30844200	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:30833800-30836600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr2:30834200-30835200	Enhancers	Osteobl	bone
24	chr2:30834200-30835400	Enhancers	GM12878-XiMat	blood
25	chr2:30834200-30835400	Enhancers	HSMM	muscle
26	chr2:30834200-30835600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:30834200-30835600	Enhancers	HSMMtube	muscle
28	chr2:30834200-30835800	Enhancers	NHDF-Ad	bronchial
29	chr2:30834200-30836000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:30834200-30836200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:30834200-30836200	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr2:30834200-30836200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr2:30834200-30836200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:30834200-30836200	Enhancers	Left Ventricle	heart
35	chr2:30834200-30836600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:30834200-30836600	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:30834400-30835600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:30834400-30835600	Enhancers	Fetal Lung	lung
39	chr2:30834400-30835800	Enhancers	Primary B cells from peripheral blood	blood
40	chr2:30834400-30836000	Enhancers	Fetal Muscle Leg	muscle
41	chr2:30834400-30836200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:30834400-30836400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:30834400-30836600	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:30834400-30836600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr2:30834600-30835400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr2:30834600-30835400	Enhancers	Brain Anterior Caudate	brain
47	chr2:30834600-30835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr2:30834600-30835800	Enhancers	Fetal Kidney	kidney
49	chr2:30834600-30836200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr2:30834600-30844600	Weak transcription	Right Ventricle	heart

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