Variant report

Variant	rs4464333
Chromosome Location	chr2:48673328-48673329
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48671387..48674060-chr2:48675787..48677578,2	K562	blood:
2	chr2:48673221..48675776-chr2:48684217..48685788,2	MCF-7	breast:
3	chr2:48671546..48674285-chr2:48724778..48726392,2	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10185212	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10865229	0.86[ASN][1000 genomes]
rs11677398	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12477901	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs13386132	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3811520	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs4328683	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4371401	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4429520	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs4430989	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs4952913	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4953574	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4953584	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs4953585	1.00[EUR][1000 genomes]
rs4953588	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs4953590	0.87[EUR][1000 genomes]
rs60578339	1.00[AMR][1000 genomes]
rs6545040	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6545043	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs6545044	1.00[CEU][hapmap]
rs6715766	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs6756820	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7355307	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs7557764	1.00[EUR][1000 genomes]
rs7577850	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7608588	1.00[CEU][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv581775	chr2:48619869-48714938	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 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	chr2:48668600-48682000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:48668800-48673600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr2:48668800-48674200	Weak transcription	Small Intestine	intestine
4	chr2:48668800-48675200	Weak transcription	HSMM	muscle
5	chr2:48668800-48675800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr2:48668800-48675800	Weak transcription	Psoas Muscle	Psoas
7	chr2:48668800-48678800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:48668800-48679600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:48668800-48682400	Weak transcription	Lung	lung
10	chr2:48669000-48673600	Enhancers	Brain Substantia Nigra	brain
11	chr2:48669000-48675200	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr2:48669000-48678400	Weak transcription	Colonic Mucosa	Colon
13	chr2:48669000-48678800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr2:48669000-48679000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:48669000-48680000	Weak transcription	Fetal Stomach	stomach
16	chr2:48669000-48681800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:48669000-48683400	Weak transcription	Right Ventricle	heart
18	chr2:48669200-48673600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr2:48669200-48673600	Enhancers	HepG2	liver
20	chr2:48669200-48674400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:48669200-48675600	Weak transcription	Adipose Nuclei	Adipose
22	chr2:48669200-48678400	Weak transcription	HUVEC	blood vessel
23	chr2:48669200-48698200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr2:48669400-48673400	Enhancers	Brain Cingulate Gyrus	brain
25	chr2:48669400-48673600	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr2:48669400-48674200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr2:48669400-48674200	Weak transcription	Fetal Thymus	thymus
28	chr2:48669400-48674400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:48669400-48674400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:48669400-48674600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr2:48669400-48674800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:48669400-48675200	Enhancers	Primary T cells from cord blood	blood
33	chr2:48669400-48675200	Weak transcription	A549	lung
34	chr2:48669400-48675200	Weak transcription	HSMMtube	muscle
35	chr2:48669400-48675400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:48669400-48675400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:48669400-48675400	Weak transcription	NH-A	brain
38	chr2:48669400-48675800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:48669400-48685000	Weak transcription	Fetal Brain Female	brain
40	chr2:48669400-48693800	Weak transcription	Hela-S3	cervix
41	chr2:48669600-48674800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:48669600-48675000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:48669600-48675800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:48669600-48675800	Weak transcription	Stomach Mucosa	stomach
45	chr2:48669600-48694200	Weak transcription	Fetal Brain Male	brain
46	chr2:48669800-48674200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr2:48669800-48674200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr2:48669800-48675400	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:48670000-48674600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr2:48670000-48675400	Weak transcription	Duodenum Mucosa	Duodenum

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