Variant report

Variant	rs4243470
Chromosome Location	chr6:144706190-144706191
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	chr6:144703360..144705109-chr6:144705207..144708141,2	MCF-7	breast:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs6570624	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570626	0.87[EUR][1000 genomes]
rs6904422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7765923	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9376819	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9386066	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144690800-144712800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:144691600-144713800	Weak transcription	Thymus	Thymus
3	chr6:144697000-144714800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:144697200-144732600	Weak transcription	Gastric	stomach
5	chr6:144699000-144708600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr6:144700000-144709800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr6:144700600-144707000	Weak transcription	Lung	lung
8	chr6:144700600-144708800	Weak transcription	Adipose Nuclei	Adipose
9	chr6:144700600-144719200	Weak transcription	Ovary	ovary
10	chr6:144700800-144707200	Weak transcription	Right Atrium	heart
11	chr6:144700800-144707200	Weak transcription	HUVEC	blood vessel
12	chr6:144700800-144712200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:144700800-144712200	Weak transcription	Right Ventricle	heart
14	chr6:144700800-144716000	Weak transcription	NHLF	lung
15	chr6:144700800-144719000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr6:144700800-144719000	Weak transcription	Esophagus	oesophagus
17	chr6:144700800-144719000	Weak transcription	Spleen	Spleen
18	chr6:144701000-144708600	Weak transcription	Stomach Mucosa	stomach
19	chr6:144701200-144711200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr6:144702600-144708200	Weak transcription	HepG2	liver
21	chr6:144702800-144711400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:144702800-144713000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr6:144702800-144720600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:144703200-144713400	Weak transcription	Primary T cells from cord blood	blood
25	chr6:144703200-144719000	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:144703400-144708600	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr6:144703400-144711200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:144703400-144714000	Weak transcription	Fetal Thymus	thymus
29	chr6:144703400-144717600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:144703600-144707200	Weak transcription	Primary B cells from peripheral blood	blood
31	chr6:144703600-144708800	Weak transcription	Primary B cells from cord blood	blood
32	chr6:144703800-144718600	Weak transcription	Primary hematopoietic stem cells	blood
33	chr6:144704000-144708600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:144704000-144718400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr6:144704000-144719000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr6:144704600-144709000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:144705200-144714600	Weak transcription	GM12878-XiMat	blood
38	chr6:144705400-144706400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr6:144705400-144706800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr6:144705400-144706800	Weak transcription	Aorta	Aorta
41	chr6:144705600-144706200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:144705600-144707200	Weak transcription	Left Ventricle	heart
43	chr6:144705600-144711200	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr6:144705600-144711400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr6:144705600-144711800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr6:144705600-144713400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr6:144705800-144707200	Weak transcription	Pancreas	Pancrea
48	chr6:144705800-144708600	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr6:144705800-144708600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr6:144705800-144712200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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