Variant report

Variant	rs6761606
Chromosome Location	chr2:171856669-171856670
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171839559..171842125-chr2:171855195..171857476,2	K562	blood:
2	chr2:171847917..171851869-chr2:171851958..171856962,5	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10168109	1.00[EUR][1000 genomes]
rs10173304	1.00[EUR][1000 genomes]
rs10174275	1.00[EUR][1000 genomes]
rs10204442	1.00[EUR][1000 genomes]
rs10754976	1.00[EUR][1000 genomes]
rs10803856	1.00[EUR][1000 genomes]
rs10930452	1.00[EUR][1000 genomes]
rs12621215	1.00[EUR][1000 genomes]
rs13382924	1.00[EUR][1000 genomes]
rs13385649	1.00[EUR][1000 genomes]
rs13395368	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13408916	1.00[EUR][1000 genomes]
rs13415374	1.00[EUR][1000 genomes]
rs13417630	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13418838	1.00[EUR][1000 genomes]
rs13422667	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13426912	1.00[EUR][1000 genomes]
rs13428121	1.00[EUR][1000 genomes]
rs1863773	1.00[EUR][1000 genomes]
rs2033161	1.00[EUR][1000 genomes]
rs2052809	1.00[EUR][1000 genomes]
rs2059722	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2217151	1.00[EUR][1000 genomes]
rs2217184	1.00[EUR][1000 genomes]
rs2247657	1.00[EUR][1000 genomes]
rs2356372	1.00[EUR][1000 genomes]
rs2555919	1.00[EUR][1000 genomes]
rs2555920	1.00[EUR][1000 genomes]
rs2555921	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2555923	1.00[EUR][1000 genomes]
rs2555924	1.00[EUR][1000 genomes]
rs2555925	1.00[EUR][1000 genomes]
rs2555927	1.00[EUR][1000 genomes]
rs2557800	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2557801	1.00[EUR][1000 genomes]
rs2557805	1.00[EUR][1000 genomes]
rs2676129	1.00[EUR][1000 genomes]
rs2676134	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676135	0.80[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2676146	1.00[EUR][1000 genomes]
rs2676148	1.00[EUR][1000 genomes]
rs2723237	1.00[EUR][1000 genomes]
rs2723244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723246	1.00[EUR][1000 genomes]
rs2723247	1.00[EUR][1000 genomes]
rs28499279	1.00[EUR][1000 genomes]
rs28641775	1.00[EUR][1000 genomes]
rs4027753	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4668365	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4668366	1.00[EUR][1000 genomes]
rs4668367	1.00[EUR][1000 genomes]
rs6433274	1.00[EUR][1000 genomes]
rs6433279	1.00[EUR][1000 genomes]
rs6433280	1.00[EUR][1000 genomes]
rs6721080	1.00[EUR][1000 genomes]
rs6722314	1.00[EUR][1000 genomes]
rs6732108	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6735986	1.00[EUR][1000 genomes]
rs6749884	1.00[EUR][1000 genomes]
rs6751462	1.00[EUR][1000 genomes]
rs73027301	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7560590	1.00[EUR][1000 genomes]
rs7582081	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7584937	1.00[EUR][1000 genomes]
rs964171	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	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
3	chr2:171831200-171857400	Weak transcription	HSMMtube	muscle
4	chr2:171831400-171857000	Weak transcription	NHEK	skin
5	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:171838600-171862000	Weak transcription	Ovary	ovary
8	chr2:171838800-171861800	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:171840800-171861800	Weak transcription	Small Intestine	intestine
10	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
11	chr2:171841000-171862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:171841000-171865400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:171841000-171877800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr2:171841000-171895800	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr2:171841600-171859000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:171841600-171940000	Weak transcription	Right Ventricle	heart
17	chr2:171842200-171892000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:171842400-171857600	Weak transcription	Fetal Brain Female	brain
19	chr2:171842600-171912000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr2:171843000-171877400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:171843200-171863200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr2:171843200-171871800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:171843600-171857000	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:171843800-171863400	Strong transcription	Fetal Thymus	thymus
25	chr2:171844600-171868800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:171844800-171863400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:171844800-171873000	Strong transcription	GM12878-XiMat	blood
28	chr2:171845200-171861000	Weak transcription	Hela-S3	cervix
29	chr2:171845400-171858800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:171846000-171898000	Weak transcription	Psoas Muscle	Psoas
31	chr2:171846200-171901000	Weak transcription	Fetal Brain Male	brain
32	chr2:171847200-171857200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:171847200-171871600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr2:171847400-171864200	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr2:171847400-171871600	Strong transcription	Dnd41	blood
36	chr2:171847400-171902600	Weak transcription	Brain Angular Gyrus	brain
37	chr2:171847600-171857000	Weak transcription	Fetal Lung	lung
38	chr2:171847600-171871800	Strong transcription	Placenta	Placenta
39	chr2:171847600-171872000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:171847600-171872000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:171847800-171863400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr2:171847800-171878200	Weak transcription	Stomach Mucosa	stomach
43	chr2:171848000-171859200	Weak transcription	A549	lung
44	chr2:171848000-171866400	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:171848200-171860200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:171848200-171869000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:171848600-171857400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr2:171848600-171857800	Weak transcription	Colonic Mucosa	Colon
49	chr2:171848800-171862000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr2:171848800-171873000	Strong transcription	HepG2	liver

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