Variant report

Variant	rs6704044
Chromosome Location	chr1:212287099-212287100
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:212283620..212286277-chr1:212286773..212289350,3	K562	blood:

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:83)

rs_ID	r²[population]
rs1017979	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs10863933	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863934	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863938	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10863940	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2788128	1.00[AMR][1000 genomes]
rs2788129	1.00[AMR][1000 genomes]
rs2788130	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2788131	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs2788134	1.00[AMR][1000 genomes]
rs2788135	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs2788136	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes]
rs2788137	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2788141	1.00[CEU][hapmap]
rs2788142	1.00[CEU][hapmap]
rs2808380	0.91[YRI][hapmap]
rs2808383	1.00[CEU][hapmap]
rs2808384	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2808387	1.00[AMR][1000 genomes]
rs2808390	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2970573	1.00[AMR][1000 genomes]
rs2970574	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes]
rs2970575	1.00[AMR][1000 genomes]
rs2970576	1.00[CEU][hapmap]
rs2970585	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970586	1.00[CEU][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970588	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2970590	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970591	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970594	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970596	1.00[EUR][1000 genomes]
rs2970597	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970598	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2970600	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2970602	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993524	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993525	1.00[CEU][hapmap];0.84[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993526	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993527	1.00[CEU][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993530	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993532	0.82[EUR][1000 genomes]
rs2993536	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993537	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2993540	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs2993542	1.00[AMR][1000 genomes]
rs2993543	1.00[CEU][hapmap]
rs2993546	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2993548	1.00[AMR][1000 genomes]
rs2993549	1.00[CEU][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009983	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3009986	1.00[CEU][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009990	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009992	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009993	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009994	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009995	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009996	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009998	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3009999	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010000	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010001	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3010005	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs3010008	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes]
rs3010014	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010015	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010017	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010018	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010019	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010020	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010021	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3010022	1.00[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4309042	0.82[EUR][1000 genomes]
rs4397712	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4951437	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4951565	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6540717	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6540718	1.00[AMR][1000 genomes]
rs6656826	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6658972	1.00[CEU][hapmap];0.92[YRI][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6672030	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6683980	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7532954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7551276	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212262200-212289200	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr1:212272000-212291000	Weak transcription	Left Ventricle	heart
3	chr1:212274200-212301600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:212274400-212308200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:212277000-212298200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr1:212279000-212291800	Weak transcription	HepG2	liver
7	chr1:212279800-212287400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:212280000-212299600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:212281200-212308400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:212281400-212287200	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr1:212281600-212288600	Strong transcription	Dnd41	blood
12	chr1:212282600-212292000	Weak transcription	GM12878-XiMat	blood
13	chr1:212282800-212287200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:212282800-212292000	Weak transcription	Right Atrium	heart
15	chr1:212283000-212289400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:212283200-212287400	Strong transcription	A549	lung
17	chr1:212283800-212300400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr1:212284000-212298400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr1:212284400-212291600	Weak transcription	Stomach Mucosa	stomach
20	chr1:212284400-212292400	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:212284400-212294600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:212284400-212294600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:212284400-212300400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr1:212285000-212303200	Weak transcription	Fetal Stomach	stomach
25	chr1:212285400-212290800	Weak transcription	K562	blood
26	chr1:212285400-212292000	Weak transcription	Thymus	Thymus
27	chr1:212285400-212299600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:212285600-212288000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr1:212285600-212291600	Weak transcription	Fetal Heart	heart
30	chr1:212285600-212291800	Weak transcription	Psoas Muscle	Psoas
31	chr1:212285600-212311200	Weak transcription	Hela-S3	cervix
32	chr1:212285800-212298400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr1:212286600-212287800	Enhancers	Fetal Intestine Small	intestine
34	chr1:212286600-212298200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr1:212286800-212287600	Enhancers	Fetal Intestine Large	intestine
36	chr1:212286800-212287800	Strong transcription	Fetal Thymus	thymus
37	chr1:212287000-212287200	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr1:212287000-212287600	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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