Variant report

Variant	rs10864429
Chromosome Location	chr1:9612774-9612775
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:9611445..9613626-chr1:9623378..9625185,2	K562	blood:
2	chr1:9611290..9614172-chr1:9620896..9622446,2	K562	blood:
3	chr1:9605011..9608297-chr1:9610282..9613172,3	MCF-7	breast:
4	chr1:9611802..9613615-chr1:9618400..9620360,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs12022881	0.81[CEU][hapmap];0.86[CHB][hapmap];0.85[JPT][hapmap];0.96[YRI][hapmap];0.85[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12023288	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12037667	0.86[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.93[ASN][1000 genomes]
rs12040542	0.86[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12045459	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12045493	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12070568	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12084279	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs28719694	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3923984	0.93[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4073710	0.87[CEU][hapmap];0.85[JPT][hapmap];0.82[EUR][1000 genomes]
rs4074744	0.87[CEU][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs4423053	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4926482	0.93[EUR][1000 genomes]
rs55655211	0.93[ASN][1000 genomes]
rs55687246	0.90[ASN][1000 genomes]
rs55780537	0.93[ASN][1000 genomes]
rs55986711	0.93[ASN][1000 genomes]
rs56026893	0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56053581	0.96[EUR][1000 genomes]
rs57272167	0.98[AFR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58478478	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs60744607	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs61782983	0.81[EUR][1000 genomes]
rs6540961	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6540962	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6675436	0.93[EUR][1000 genomes]
rs6698575	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72646708	0.80[ASN][1000 genomes]
rs72646709	0.93[ASN][1000 genomes]
rs72646711	0.80[ASN][1000 genomes]
rs72646712	0.93[ASN][1000 genomes]
rs72646713	0.93[ASN][1000 genomes]
rs72646715	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72646718	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7411273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7525099	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7544083	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes]
rs9430152	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9430153	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs9430174	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9430180	0.83[EUR][1000 genomes]
rs9430182	0.87[CEU][hapmap];0.93[CHB][hapmap];0.90[JPT][hapmap];0.89[ASN][1000 genomes]
rs9430184	0.87[CEU][hapmap];0.89[JPT][hapmap]
rs9430273	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9430274	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9430332	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931984	chr1:8879337-9694749	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	570 gene(s)	inside rSNPs	diseases
2	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
3	nsv1013224	chr1:9441040-9699768	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS 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	31 gene(s)	inside rSNPs	diseases
4	nsv464283	chr1:9495571-9677853	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv545363	chr1:9495571-9677853	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9600600-9613800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:9600600-9615400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:9600600-9615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr1:9600800-9614000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:9600800-9614000	Weak transcription	Fetal Muscle Leg	muscle
6	chr1:9600800-9615400	Weak transcription	HSMM	muscle
7	chr1:9600800-9615600	Weak transcription	Ovary	ovary
8	chr1:9600800-9619200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr1:9601000-9613200	Weak transcription	Primary T cells from cord blood	blood
10	chr1:9601000-9613600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:9601000-9613800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:9601000-9616000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:9601000-9616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr1:9601000-9617800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr1:9601000-9618000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr1:9601000-9621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr1:9601000-9621400	Weak transcription	A549	lung
18	chr1:9601200-9613600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr1:9601200-9615400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:9601200-9615600	Weak transcription	Primary B cells from cord blood	blood
21	chr1:9601200-9615800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr1:9601200-9616000	Weak transcription	HMEC	breast
23	chr1:9601200-9617200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr1:9601200-9617600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:9602400-9614000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:9602400-9615200	Weak transcription	Fetal Thymus	thymus
27	chr1:9602600-9613600	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:9602600-9613800	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:9602600-9614800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:9602600-9614800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr1:9602600-9615000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:9602600-9615400	Weak transcription	Brain Angular Gyrus	brain
33	chr1:9602600-9615400	Weak transcription	Brain Anterior Caudate	brain
34	chr1:9602600-9615400	Weak transcription	Thymus	Thymus
35	chr1:9602600-9615600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr1:9602600-9615800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:9602600-9616000	Weak transcription	Fetal Kidney	kidney
38	chr1:9602600-9618200	Weak transcription	Fetal Brain Male	brain
39	chr1:9602600-9621600	Weak transcription	Small Intestine	intestine
40	chr1:9602800-9613600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:9602800-9613600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:9602800-9613600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr1:9602800-9613600	Weak transcription	Fetal Intestine Large	intestine
44	chr1:9602800-9613600	Weak transcription	Osteobl	bone
45	chr1:9602800-9613800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:9602800-9613800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:9602800-9613800	Weak transcription	Fetal Stomach	stomach
48	chr1:9602800-9613800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:9602800-9614000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:9602800-9614000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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