Variant report

Variant	rs2473138
Chromosome Location	chr6:144620145-144620146
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	chr6:144619381..144622236-chr6:144622938..144625711,2	K562	blood:
2	chr6:144619076..144621180-chr6:144649818..144652128,2	MCF-7	breast:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1322447	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1967671	0.96[ASN][1000 genomes]
rs2017652	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473130	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs2473131	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2473132	0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2473133	0.94[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs2473134	0.97[CHD][hapmap];0.94[JPT][hapmap];0.98[ASN][1000 genomes]
rs2473135	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2473136	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2473137	1.00[CEU][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes]
rs2473139	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]
rs2473140	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.94[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]
rs2473141	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473142	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2473143	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473144	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2473145	0.80[CHB][hapmap];0.89[JPT][hapmap];0.99[ASN][1000 genomes]
rs2473146	0.96[EUR][1000 genomes]
rs2473148	1.00[CEU][hapmap];0.83[JPT][hapmap];0.96[EUR][1000 genomes]
rs2473149	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2473150	0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2473151	0.81[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2502628	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2502630	0.89[CEU][hapmap];0.95[EUR][1000 genomes]
rs2502631	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2502635	0.89[EUR][1000 genomes]
rs2502637	0.89[CEU][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes]
rs2502638	0.95[EUR][1000 genomes]
rs2502639	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs2502642	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2502643	1.00[CEU][hapmap];0.98[EUR][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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144608400-144626600	Weak transcription	Spleen	Spleen
2	chr6:144608600-144626800	Weak transcription	Esophagus	oesophagus
3	chr6:144608600-144629800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:144608600-144631400	Weak transcription	Colonic Mucosa	Colon
5	chr6:144609200-144623800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr6:144609200-144623800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:144609200-144626800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:144609600-144628800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:144609600-144629000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr6:144609600-144629800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr6:144611400-144626800	Weak transcription	Fetal Thymus	thymus
13	chr6:144612400-144624000	Weak transcription	Ovary	ovary
14	chr6:144613800-144626800	Weak transcription	Thymus	Thymus
15	chr6:144615400-144630200	Weak transcription	Hela-S3	cervix
16	chr6:144615800-144623800	Weak transcription	HMEC	breast
17	chr6:144616200-144620200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:144616400-144648000	Weak transcription	NHEK	skin
19	chr6:144616800-144620200	Genic enhancers	HepG2	liver
20	chr6:144617000-144620400	Strong transcription	HSMM	muscle
21	chr6:144617000-144623800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:144617200-144629400	Weak transcription	Placenta	Placenta
23	chr6:144617200-144636400	Weak transcription	A549	lung
24	chr6:144617400-144620800	Enhancers	Adipose Nuclei	Adipose
25	chr6:144617400-144623800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr6:144617400-144625600	Weak transcription	Fetal Kidney	kidney
27	chr6:144617400-144626800	Weak transcription	Aorta	Aorta
28	chr6:144617400-144628600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr6:144617400-144628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:144617400-144629000	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr6:144617400-144630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr6:144617400-144632800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:144617600-144623800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr6:144617600-144629000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr6:144617600-144629800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr6:144617800-144622800	Weak transcription	Fetal Stomach	stomach
37	chr6:144617800-144629800	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:144618000-144620200	Weak transcription	Pancreas	Pancrea
39	chr6:144618000-144623800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:144618000-144626800	Weak transcription	Gastric	stomach
41	chr6:144618000-144626800	Weak transcription	Right Ventricle	heart
42	chr6:144618000-144626800	Weak transcription	NH-A	brain
43	chr6:144618200-144620200	Weak transcription	Monocytes-CD14+_RO01746	blood
44	chr6:144618200-144623200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr6:144618200-144628600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr6:144618200-144629400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:144618200-144629800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr6:144618200-144630200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr6:144618200-144630200	Weak transcription	HUVEC	blood vessel
50	chr6:144618400-144622400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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