Variant report

Variant	rs9489630
Chromosome Location	chr6:119559950-119559951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:119559906..119562568-chr6:119632947..119635233,2	K562	blood:
2	chr17:31149419..31151377-chr6:119557104..119560086,5	MCF-7	breast:
3	chr6:119558122..119561935-chr6:119561959..119566839,6	K562	blood:
4	chr6:119558682..119563599-chr6:119563682..119567581,7	K562	blood:
5	chr2:133034522..133037379-chr6:119557092..119560188,5	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs12209570	0.83[ASN][1000 genomes]
rs12215906	0.92[ASN][1000 genomes]
rs1324554	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs195048	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs195056	0.84[EUR][1000 genomes]
rs195058	0.80[EUR][1000 genomes]
rs195090	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs195092	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2057554	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2267673	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2267674	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267675	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2267676	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2299878	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2299886	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2357164	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3819731	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4946406	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7755155	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7755572	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9489638	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs975578	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025995	chr6:119407742-119709548	Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv886570	chr6:119450888-119600556	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1017507	chr6:119465981-119664949	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv522725	chr6:119549468-119565043	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv3447598	chr6:119558591-120119384	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv3389526	chr6:119558598-120190087	ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:119547400-119583000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:119550000-119561600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:119558800-119560200	Weak transcription	Psoas Muscle	Psoas
4	chr6:119558800-119560400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:119558800-119560400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr6:119558800-119560800	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:119558800-119560800	Weak transcription	HepG2	liver
8	chr6:119558800-119561000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr6:119558800-119561000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr6:119558800-119561000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:119558800-119561000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr6:119558800-119561000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:119558800-119561000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:119558800-119561000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:119558800-119561000	Weak transcription	Fetal Brain Male	brain
16	chr6:119558800-119561000	Weak transcription	Fetal Kidney	kidney
17	chr6:119558800-119561000	Weak transcription	K562	blood
18	chr6:119558800-119561200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr6:119558800-119561200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:119558800-119561400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:119558800-119561600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr6:119558800-119561600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr6:119558800-119561600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:119558800-119561600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr6:119558800-119561600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr6:119558800-119561600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:119558800-119561600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:119558800-119561600	Weak transcription	Adipose Nuclei	Adipose
29	chr6:119558800-119561600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr6:119558800-119561600	Weak transcription	Fetal Intestine Small	intestine
31	chr6:119558800-119561600	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr6:119558800-119561600	Weak transcription	Right Atrium	heart
33	chr6:119558800-119561600	Weak transcription	HUVEC	blood vessel
34	chr6:119558800-119561600	Weak transcription	NHEK	skin
35	chr6:119558800-119561800	Weak transcription	Colon Smooth Muscle	Colon
36	chr6:119558800-119561800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr6:119558800-119561800	Weak transcription	Fetal Lung	lung
38	chr6:119558800-119561800	Weak transcription	Fetal Stomach	stomach
39	chr6:119558800-119561800	Weak transcription	Ovary	ovary
40	chr6:119558800-119561800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr6:119558800-119561800	Weak transcription	NH-A	brain
42	chr6:119558800-119562000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr6:119558800-119562000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr6:119558800-119562000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:119558800-119562000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr6:119558800-119562000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr6:119558800-119562000	Weak transcription	Liver	Liver
48	chr6:119558800-119562000	Weak transcription	Brain Anterior Caudate	brain
49	chr6:119558800-119562000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr6:119558800-119562000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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