Variant report

Variant	rs6570621
Chromosome Location	chr6:144648915-144648916
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144647226..144649891-chr6:144650190..144651852,2	MCF-7	breast:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11970041	0.91[AMR][1000 genomes]
rs12178630	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17073670	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2223428	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2328570	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28737224	0.91[AMR][1000 genomes]
rs6570620	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6902637	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs6905106	1.00[ASN][1000 genomes]
rs6932679	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7768531	0.87[AFR][1000 genomes]
rs9321971	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484865	1.00[ASN][1000 genomes]
rs9484866	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9484867	1.00[ASN][1000 genomes]
rs9484868	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9484869	0.91[AMR][1000 genomes]
rs9484870	0.91[AMR][1000 genomes]
rs9496924	1.00[ASN][1000 genomes]
rs9496929	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496933	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496934	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9496939	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496940	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496941	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496946	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9496947	0.91[AMR][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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144635000-144651000	Weak transcription	Small Intestine	intestine
2	chr6:144635600-144650800	Weak transcription	Aorta	Aorta
3	chr6:144636000-144656200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr6:144636600-144654800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:144636800-144650800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:144636800-144654800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr6:144636800-144656400	Weak transcription	Brain Substantia Nigra	brain
8	chr6:144637000-144651800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr6:144639600-144660200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:144642200-144654800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr6:144642200-144655200	Weak transcription	Thymus	Thymus
12	chr6:144642200-144659800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:144642600-144649200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:144643200-144651600	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:144643600-144651200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:144643600-144652600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:144643600-144656400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:144643800-144652000	Weak transcription	HSMM	muscle
19	chr6:144643800-144663000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr6:144644400-144652600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr6:144644400-144652600	Weak transcription	NHDF-Ad	bronchial
22	chr6:144645400-144649200	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr6:144645600-144649400	Genic enhancers	HepG2	liver
24	chr6:144646200-144651400	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr6:144646400-144655200	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr6:144646600-144649400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:144646600-144649600	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:144646800-144652000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr6:144646800-144654600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr6:144647000-144650600	Weak transcription	Fetal Intestine Small	intestine
31	chr6:144647200-144649400	Enhancers	Fetal Heart	heart
32	chr6:144647400-144649200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:144647400-144649400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr6:144647400-144649600	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr6:144647600-144649000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:144647600-144649200	Enhancers	Fetal Muscle Leg	muscle
37	chr6:144647800-144649200	Enhancers	Esophagus	oesophagus
38	chr6:144647800-144649200	Enhancers	Fetal Thymus	thymus
39	chr6:144647800-144649400	Enhancers	Left Ventricle	heart
40	chr6:144647800-144649600	Enhancers	Right Atrium	heart
41	chr6:144647800-144651800	Enhancers	H1 Cell Line	embryonic stem cell
42	chr6:144647800-144651800	Enhancers	H9 Cell Line	embryonic stem cell
43	chr6:144648000-144649000	Enhancers	Adipose Nuclei	Adipose
44	chr6:144648000-144649000	Enhancers	Fetal Kidney	kidney
45	chr6:144648000-144649200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr6:144648000-144649200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr6:144648000-144649200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr6:144648000-144649200	Enhancers	Fetal Lung	lung
49	chr6:144648000-144649200	Enhancers	Lung	lung
50	chr6:144648000-144649200	Enhancers	Pancreas	Pancrea

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