Variant report

Variant	rs2971984
Chromosome Location	chr1:103473614-103473615
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs12025921	1.00[CEU][hapmap]
rs12726009	0.81[YRI][hapmap]
rs12726958	0.86[YRI][hapmap]
rs12728656	0.82[AFR][1000 genomes]
rs12728819	0.82[AFR][1000 genomes]
rs12729449	0.84[YRI][hapmap];0.82[AFR][1000 genomes]
rs12729588	0.82[AFR][1000 genomes]
rs12729602	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12729803	0.82[AFR][1000 genomes]
rs12731843	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12738133	1.00[YRI][hapmap];0.82[AFR][1000 genomes]
rs12744488	0.86[YRI][hapmap]
rs12748084	0.82[AFR][1000 genomes]
rs12749361	0.82[AFR][1000 genomes]
rs12749646	0.82[AFR][1000 genomes]
rs12750147	0.82[AFR][1000 genomes]
rs12750176	0.82[AFR][1000 genomes]
rs12750303	0.82[AFR][1000 genomes]
rs12750407	0.82[AFR][1000 genomes]
rs1337174	0.86[YRI][hapmap]
rs1337175	0.86[YRI][hapmap]
rs1415349	0.81[YRI][hapmap]
rs1564140	1.00[CEU][hapmap]
rs2252146	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2253854	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2376279	1.00[CEU][hapmap];0.92[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2615989	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2615996	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2615997	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2616014	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2616015	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2616016	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2616018	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2622838	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2622839	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2622840	0.87[AFR][1000 genomes]
rs2622842	1.00[EUR][1000 genomes]
rs2622847	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2622855	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2622857	0.82[YRI][hapmap]
rs2622869	1.00[CEU][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2622871	1.00[CEU][hapmap];0.90[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2622872	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2622875	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2622876	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2622877	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs2622878	1.00[CEU][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2622880	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2622881	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2786120	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2786121	0.91[YRI][hapmap];0.87[AFR][1000 genomes]
rs2786122	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs2786123	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2929163	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs3102051	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3102052	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3102055	1.00[CEU][hapmap];0.85[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34229612	0.82[AFR][1000 genomes]
rs34456893	0.88[AFR][1000 genomes]
rs34587338	0.81[AFR][1000 genomes]
rs35192078	0.82[AFR][1000 genomes]
rs35196641	0.82[AFR][1000 genomes]
rs35514519	0.82[AFR][1000 genomes]
rs35659176	0.82[AFR][1000 genomes]
rs35707694	0.82[AFR][1000 genomes]
rs35834443	0.82[AFR][1000 genomes]
rs41309169	1.00[EUR][1000 genomes]
rs58975794	0.80[EUR][1000 genomes]
rs6689035	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6700653	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6704306	0.88[AFR][1000 genomes]
rs71512568	0.82[AFR][1000 genomes]
rs71664961	0.80[AFR][1000 genomes]
rs71664962	0.82[AFR][1000 genomes]
rs71664967	0.82[AFR][1000 genomes]
rs7550143	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522922	chr1:103305021-103764640	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv870600	chr1:103336601-103548497	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv871475	chr1:103339272-103548497	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv871741	chr1:103352451-103517428	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv871078	chr1:103352451-103548497	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv870607	chr1:103362909-103528128	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv870995	chr1:103384610-103548497	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv871372	chr1:103403752-103564540	Strong transcription Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv871067	chr1:103407999-103509323	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv871736	chr1:103409100-103548497	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv871567	chr1:103416690-103499049	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	nsv871657	chr1:103427381-103528128	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv871198	chr1:103432687-103498029	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
14	nsv546935	chr1:103438795-103498029	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv462772	chr1:103438795-103499896	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv546936	chr1:103438795-103499896	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv462783	chr1:103438795-103548497	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv546937	chr1:103438795-103548497	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
19	nsv462794	chr1:103450196-103539007	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv546938	chr1:103450196-103539007	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv871286	chr1:103455217-103528128	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
22	nsv830893	chr1:103458498-103635579	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
23	nsv871733	chr1:103459537-103509323	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv871071	chr1:103471962-103509323	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:103369600-103498600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:103386200-103482000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:103415800-103485200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr1:103423800-103476000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:103425000-103478000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr1:103446800-103497800	Weak transcription	HSMM	muscle
7	chr1:103449200-103545200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:103453400-103490000	Weak transcription	NH-A	brain
9	chr1:103460200-103516400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:103468400-103478600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:103469800-103486600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr1:103471200-103475000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:103471400-103476600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr1:103471400-103486600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:103471800-103474400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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