Variant report

Variant	rs2473137
Chromosome Location	chr6:144619178-144619179
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144619076..144621180-chr6:144649818..144652128,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs2017652	0.98[EUR][1000 genomes]
rs2473130	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473135	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2473138	1.00[CEU][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes]
rs2473139	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2473140	1.00[CEU][hapmap];1.00[TSI][hapmap];0.98[EUR][1000 genomes]
rs2473141	0.98[EUR][1000 genomes]
rs2473142	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2473143	0.98[EUR][1000 genomes]
rs2473144	0.98[EUR][1000 genomes]
rs2473146	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2473147	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs2473148	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs2473149	1.00[CEU][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs2473150	0.93[EUR][1000 genomes]
rs2473151	0.81[CEU][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes]
rs2502628	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2502630	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2502631	0.93[EUR][1000 genomes]
rs2502634	0.88[GIH][hapmap];1.00[MEX][hapmap]
rs2502635	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2502637	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502638	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2502642	0.98[EUR][1000 genomes]
rs2502643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144608400-144626600	Weak transcription	Spleen	Spleen
2	chr6:144608600-144619400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr6:144608600-144626800	Weak transcription	Esophagus	oesophagus
4	chr6:144608600-144629800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr6:144608600-144631400	Weak transcription	Colonic Mucosa	Colon
6	chr6:144609200-144623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr6:144609200-144623800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:144609200-144626800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr6:144609600-144628800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr6:144609600-144629000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:144609600-144629800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr6:144611400-144626800	Weak transcription	Fetal Thymus	thymus
14	chr6:144612400-144624000	Weak transcription	Ovary	ovary
15	chr6:144613800-144626800	Weak transcription	Thymus	Thymus
16	chr6:144615400-144630200	Weak transcription	Hela-S3	cervix
17	chr6:144615800-144623800	Weak transcription	HMEC	breast
18	chr6:144616200-144620200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:144616400-144619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:144616400-144619800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:144616400-144648000	Weak transcription	NHEK	skin
22	chr6:144616800-144619800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:144616800-144619800	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr6:144616800-144620200	Genic enhancers	HepG2	liver
25	chr6:144617000-144620400	Strong transcription	HSMM	muscle
26	chr6:144617000-144623800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr6:144617200-144619600	Enhancers	Psoas Muscle	Psoas
28	chr6:144617200-144629400	Weak transcription	Placenta	Placenta
29	chr6:144617200-144636400	Weak transcription	A549	lung
30	chr6:144617400-144619400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr6:144617400-144619800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr6:144617400-144619800	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:144617400-144620800	Enhancers	Adipose Nuclei	Adipose
34	chr6:144617400-144623800	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr6:144617400-144625600	Weak transcription	Fetal Kidney	kidney
36	chr6:144617400-144626800	Weak transcription	Aorta	Aorta
37	chr6:144617400-144628600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:144617400-144628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:144617400-144629000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr6:144617400-144630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr6:144617400-144632800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr6:144617600-144619200	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr6:144617600-144619800	Enhancers	Small Intestine	intestine
44	chr6:144617600-144623800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr6:144617600-144629000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:144617600-144629800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:144617800-144619200	Genic enhancers	Osteobl	bone
48	chr6:144617800-144619800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr6:144617800-144619800	Enhancers	Brain Hippocampus Middle	brain
50	chr6:144617800-144619800	Enhancers	Fetal Heart	heart

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