Variant report

Variant	rs2723246
Chromosome Location	chr2:171841225-171841226
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:171839559..171842125-chr2:171855195..171857476,2	K562	blood:
2	chr2:171839549..171841801-chr2:171844212..171847084,2	K562	blood:
3	chr2:171829705..171831736-chr2:171840478..171843316,2	MCF-7	breast:
4	chr2:171840049..171842807-chr2:171844116..171846673,2	MCF-7	breast:
5	chr2:171831373..171832895-chr2:171839356..171842294,2	K562	blood:
6	chr2:171828686..171830946-chr2:171840521..171842454,2	K562	blood:
7	chr2:171839960..171842207-chr2:171852236..171854896,2	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

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[GIH][hapmap];1.00[EUR][1000 genomes]
rs10803856	1.00[EUR][1000 genomes]
rs10930452	1.00[GIH][hapmap];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[EUR][1000 genomes]
rs13408916	1.00[EUR][1000 genomes]
rs13415374	1.00[EUR][1000 genomes]
rs13417630	1.00[EUR][1000 genomes]
rs13418838	1.00[EUR][1000 genomes]
rs13422667	1.00[EUR][1000 genomes]
rs13426912	1.00[EUR][1000 genomes]
rs13428121	1.00[EUR][1000 genomes]
rs1863773	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs2033161	1.00[EUR][1000 genomes]
rs2052809	1.00[EUR][1000 genomes]
rs2059722	1.00[EUR][1000 genomes]
rs2217151	1.00[EUR][1000 genomes]
rs2217184	0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs2247657	0.84[YRI][hapmap];1.00[EUR][1000 genomes]
rs2356372	1.00[EUR][1000 genomes]
rs2555919	1.00[EUR][1000 genomes]
rs2555920	1.00[GIH][hapmap];0.81[MKK][hapmap];1.00[EUR][1000 genomes]
rs2555921	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[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs2557795	0.86[YRI][hapmap]
rs2557800	1.00[EUR][1000 genomes]
rs2557801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2557805	1.00[EUR][1000 genomes]
rs2676129	1.00[EUR][1000 genomes]
rs2676134	1.00[EUR][1000 genomes]
rs2676135	1.00[EUR][1000 genomes]
rs2676146	1.00[EUR][1000 genomes]
rs2676148	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2723237	1.00[EUR][1000 genomes]
rs2723244	0.91[YRI][hapmap];1.00[EUR][1000 genomes]
rs2723247	1.00[GIH][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes]
rs28499279	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28641775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4027753	1.00[EUR][1000 genomes]
rs4668366	1.00[EUR][1000 genomes]
rs4668367	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs6433274	0.86[YRI][hapmap];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[GIH][hapmap];0.85[LWK][hapmap];1.00[EUR][1000 genomes]
rs6735986	1.00[EUR][1000 genomes]
rs6749884	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs6751462	1.00[EUR][1000 genomes]
rs6761606	1.00[EUR][1000 genomes]
rs73027301	1.00[EUR][1000 genomes]
rs7371248	0.81[AFR][1000 genomes]
rs7560590	1.00[EUR][1000 genomes]
rs7582081	1.00[EUR][1000 genomes]
rs7584937	1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs964171	1.00[GIH][hapmap];1.00[MEX][hapmap];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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171830400-171842200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:171830600-171902800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:171830800-171891400	Weak transcription	Spleen	Spleen
4	chr2:171831000-171847600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:171831000-171850000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr2:171831200-171843200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr2:171831200-171845400	Weak transcription	HMEC	breast
8	chr2:171831200-171845800	Weak transcription	Osteobl	bone
9	chr2:171831200-171847000	Weak transcription	A549	lung
10	chr2:171831200-171857400	Weak transcription	HSMMtube	muscle
11	chr2:171831400-171849400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:171831400-171857000	Weak transcription	NHEK	skin
13	chr2:171831400-171879200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr2:171831400-171916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:171832000-171844800	Weak transcription	GM12878-XiMat	blood
16	chr2:171832600-171846000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:171832600-171852200	Weak transcription	Fetal Intestine Small	intestine
18	chr2:171833000-171848800	Weak transcription	HepG2	liver
19	chr2:171835600-171843400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:171836600-171844800	Weak transcription	Primary T cells from cord blood	blood
21	chr2:171837600-171849200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:171838400-171849600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:171838600-171862000	Weak transcription	Ovary	ovary
24	chr2:171838800-171843800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:171838800-171845400	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:171838800-171847600	Weak transcription	Duodenum Mucosa	Duodenum
27	chr2:171838800-171861800	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:171839000-171852400	Weak transcription	NHLF	lung
29	chr2:171839200-171843400	Weak transcription	Placenta	Placenta
30	chr2:171839200-171846600	Weak transcription	Liver	Liver
31	chr2:171839200-171847200	Weak transcription	K562	blood
32	chr2:171839200-171854800	Weak transcription	Pancreas	Pancrea
33	chr2:171839400-171844600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr2:171839600-171844600	Weak transcription	Fetal Muscle Leg	muscle
35	chr2:171839800-171843200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr2:171839800-171843200	Weak transcription	HSMM	muscle
37	chr2:171839800-171845600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr2:171840200-171845000	Weak transcription	Primary B cells from cord blood	blood
39	chr2:171840400-171843600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr2:171840400-171844600	Weak transcription	Fetal Stomach	stomach
41	chr2:171840400-171844800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:171840800-171842000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:171840800-171845400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:171840800-171861800	Weak transcription	Small Intestine	intestine
45	chr2:171840800-171879200	Weak transcription	Brain Hippocampus Middle	brain
46	chr2:171841000-171844800	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr2:171841000-171845400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr2:171841000-171845400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:171841000-171845400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:171841000-171847200	Weak transcription	HUES64 Cell Line	embryonic stem cell

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