Variant report

Variant	rs4671548
Chromosome Location	chr2:64355191-64355192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64354212..64356714-chr2:64359310..64361277,2	MCF-7	breast:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10185776	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs10186108	0.90[CHB][hapmap];0.87[ASN][1000 genomes]
rs10192642	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs10496106	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs11673747	0.95[CEU][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11679748	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12624273	0.87[ASN][1000 genomes]
rs17028340	1.00[YRI][hapmap]
rs1814406	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1837484	0.95[CEU][hapmap];0.95[CHB][hapmap];0.92[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2017834	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs2576835	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2576837	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2901645	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs329481	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs329482	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs329486	0.85[CHB][hapmap]
rs329497	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs329498	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs329501	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4671081	0.87[ASN][1000 genomes]
rs4671082	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs55756539	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61504639	0.85[ASN][1000 genomes]
rs62138486	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs714672	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs717382	0.91[CHB][hapmap];0.87[ASN][1000 genomes]
rs7558544	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7558568	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7559410	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7563423	0.84[CHB][hapmap];0.87[ASN][1000 genomes]
rs7572397	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7574193	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7575383	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7577356	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7585957	0.87[ASN][1000 genomes]
rs7604199	0.91[CHB][hapmap];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
9	nsv1006553	chr2:64339907-64764771	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
10	nsv9957	chr2:64341714-64518231	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	esv13275	chr2:64342247-64515169	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv1012905	chr2:64342469-64508983	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
13	nsv1013735	chr2:64342469-64512286	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv3693324	chr2:64342469-64513207	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
15	nsv999608	chr2:64342469-64517459	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
16	nsv1000390	chr2:64343861-64512286	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
17	esv2756924	chr2:64349202-64521290	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
2	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr2:64340400-64370200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:64342000-64365200	Weak transcription	Left Ventricle	heart
5	chr2:64342200-64358600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:64342800-64360600	Weak transcription	K562	blood
7	chr2:64342800-64362200	Weak transcription	Thymus	Thymus
8	chr2:64343800-64361800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:64344000-64361000	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:64344200-64356000	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:64344200-64356400	Weak transcription	Fetal Lung	lung
12	chr2:64344400-64355600	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:64344400-64360600	Weak transcription	HUVEC	blood vessel
14	chr2:64344400-64361000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:64345000-64355400	Enhancers	Fetal Intestine Large	intestine
16	chr2:64346800-64356000	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr2:64347400-64368800	Weak transcription	Spleen	Spleen
18	chr2:64347800-64358000	Weak transcription	Fetal Heart	heart
19	chr2:64348400-64355800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr2:64348400-64355800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr2:64348400-64356200	Weak transcription	Liver	Liver
22	chr2:64348400-64356400	Weak transcription	Colonic Mucosa	Colon
23	chr2:64348400-64357200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:64348400-64364600	Weak transcription	Adipose Nuclei	Adipose
25	chr2:64348400-64366400	Weak transcription	Right Atrium	heart
26	chr2:64348600-64356000	Weak transcription	HMEC	breast
27	chr2:64348600-64359000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:64348600-64359200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:64348600-64359400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:64348600-64361600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:64348600-64365200	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:64349000-64356000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:64349000-64359400	Weak transcription	Fetal Thymus	thymus
34	chr2:64349200-64357200	Weak transcription	NHEK	skin
35	chr2:64349800-64363800	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:64350400-64364600	Weak transcription	Primary B cells from cord blood	blood
37	chr2:64350600-64359400	Weak transcription	Primary B cells from peripheral blood	blood
38	chr2:64350800-64356000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr2:64351000-64355600	Weak transcription	Primary T cells from cord blood	blood
40	chr2:64351200-64359800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:64351400-64364400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:64351800-64356000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr2:64351800-64356000	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr2:64352600-64355200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:64352600-64355600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:64353000-64355200	Genic enhancers	GM12878-XiMat	blood
47	chr2:64353200-64358200	Enhancers	Duodenum Mucosa	Duodenum
48	chr2:64353600-64357800	Enhancers	HepG2	liver
49	chr2:64353800-64355200	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr2:64353800-64356400	Enhancers	Brain Angular Gyrus	brain

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