Variant report

Variant	rs2473154
Chromosome Location	chr6:144636005-144636006
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	chr6:144555277..144558244-chr6:144634800..144636756,2	K562	blood:
2	chr6:144635200..144637936-chr6:144642153..144644921,2	MCF-7	breast:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs2328569	0.92[CEU][hapmap];0.92[EUR][1000 genomes]
rs2473152	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2473153	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs622718	0.85[CEU][hapmap];0.91[EUR][1000 genomes]
rs637232	0.83[EUR][1000 genomes]
rs673923	0.90[EUR][1000 genomes]
rs675261	0.84[CEU][hapmap];0.91[EUR][1000 genomes]
rs74671	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs760855	0.80[CEU][hapmap]
rs849669	0.89[CEU][hapmap];0.91[EUR][1000 genomes]
rs926397	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs926398	1.00[CEU][hapmap];0.99[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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr6:144616400-144648000	Weak transcription	NHEK	skin
3	chr6:144617200-144636400	Weak transcription	A549	lung
4	chr6:144622400-144637000	Genic enhancers	HepG2	liver
5	chr6:144624200-144641400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:144624200-144641600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:144624400-144648000	Weak transcription	HMEC	breast
8	chr6:144627400-144641800	Weak transcription	Thymus	Thymus
9	chr6:144627600-144636400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr6:144627600-144643400	Weak transcription	NH-A	brain
11	chr6:144627600-144645800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr6:144629400-144641800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:144630200-144648400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr6:144630600-144648200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:144631000-144636400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr6:144631000-144636400	Weak transcription	Primary hematopoietic stem cells	blood
17	chr6:144631200-144636400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr6:144631200-144638000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr6:144631200-144638600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:144631400-144636200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr6:144631400-144636400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr6:144631400-144637000	Weak transcription	Fetal Intestine Large	intestine
23	chr6:144631600-144640200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr6:144631600-144641600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:144632000-144636200	Weak transcription	Fetal Intestine Small	intestine
26	chr6:144632000-144636600	Weak transcription	Colonic Mucosa	Colon
27	chr6:144632800-144641000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr6:144633000-144641600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:144633000-144641800	Weak transcription	HSMM	muscle
30	chr6:144633600-144637200	Enhancers	Liver	Liver
31	chr6:144634000-144636600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr6:144634000-144637600	Enhancers	Right Ventricle	heart
33	chr6:144634000-144639200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:144634000-144639400	Enhancers	Fetal Kidney	kidney
35	chr6:144634200-144636200	Enhancers	NHLF	lung
36	chr6:144634200-144636600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:144634200-144636600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:144634200-144637000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr6:144634200-144637000	Enhancers	Fetal Lung	lung
40	chr6:144634200-144637200	Enhancers	Left Ventricle	heart
41	chr6:144634200-144637200	Enhancers	Right Atrium	heart
42	chr6:144634200-144637400	Enhancers	Ovary	ovary
43	chr6:144634200-144637400	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr6:144634200-144637600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr6:144634200-144638000	Enhancers	Fetal Heart	heart
46	chr6:144634200-144638000	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr6:144634200-144639400	Enhancers	HUVEC	blood vessel
48	chr6:144634200-144640800	Enhancers	NHDF-Ad	bronchial
49	chr6:144634400-144639400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr6:144634400-144640000	Weak transcription	Primary monocytes fromperipheralblood	blood

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