Variant report

Variant	rs9468444
Chromosome Location	chr6:28887706-28887707
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:28882695..28884906-chr6:28886745..28889528,2	MCF-7	breast:
2	chr6:28874441..28877573-chr6:28886876..28891614,6	MCF-7	breast:
3	chr6:28864161..28868397-chr6:28882536..28888078,6	MCF-7	breast:
4	chr6:28874958..28881784-chr6:28883001..28892669,21	MCF-7	breast:
5	chr6:28886838..28893375-chr6:28904762..28912890,19	K562	blood:

Variant related genes	Relation type
ENSG00000224157	Chromatin interaction
ENSG00000212240	Chromatin interaction
ENSG00000204713	Chromatin interaction
ENSG00000204709	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13437309	1.00[AMR][1000 genomes]
rs6916645	1.00[AMR][1000 genomes]
rs6922228	1.00[AMR][1000 genomes]
rs6928657	1.00[AMR][1000 genomes]
rs9295780	1.00[AMR][1000 genomes]
rs9295781	0.95[AFR][1000 genomes]
rs9468481	1.00[AMR][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	nsv883518	chr6:28792477-28911802	Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv883519	chr6:28792477-28936556	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
3	nsv427748	chr6:28831888-28999434	Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	62 gene(s)	inside rSNPs	diseases
4	nsv601212	chr6:28833225-28893927	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
5	nsv462667	chr6:28834646-28893927	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv830622	chr6:28861667-29015804	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28867000-28889400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:28867600-28889200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:28867600-28889400	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:28867600-28889600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:28867800-28888200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:28867800-28888400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr6:28867800-28888400	Strong transcription	Fetal Thymus	thymus
8	chr6:28867800-28889200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr6:28867800-28889200	Strong transcription	HMEC	breast
10	chr6:28867800-28889400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:28867800-28889400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:28867800-28889600	Strong transcription	Fetal Lung	lung
13	chr6:28868000-28889200	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:28868200-28889600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:28868200-28889800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:28868400-28888400	Strong transcription	Adipose Nuclei	Adipose
17	chr6:28868400-28888400	Strong transcription	Duodenum Mucosa	Duodenum
18	chr6:28868400-28888400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr6:28868400-28888400	Strong transcription	Fetal Brain Female	brain
20	chr6:28868400-28888400	Strong transcription	Fetal Muscle Leg	muscle
21	chr6:28868400-28888600	Strong transcription	Fetal Muscle Trunk	muscle
22	chr6:28868400-28889000	Strong transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:28868400-28889200	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr6:28868400-28889400	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr6:28868400-28889400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:28868600-28887800	Strong transcription	Left Ventricle	heart
27	chr6:28868600-28888400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:28868600-28888600	Strong transcription	Duodenum Smooth Muscle	Duodenum
29	chr6:28868600-28889400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:28868600-28889400	Strong transcription	Fetal Intestine Large	intestine
31	chr6:28868600-28889800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:28869000-28888600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr6:28869000-28889400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr6:28869600-28889200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:28869600-28889600	Strong transcription	Fetal Stomach	stomach
36	chr6:28870200-28889000	Strong transcription	Fetal Intestine Small	intestine
37	chr6:28875800-28889400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr6:28876000-28889600	Strong transcription	Osteobl	bone
39	chr6:28876200-28889600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:28876800-28888600	Strong transcription	NH-A	brain
41	chr6:28878200-28889600	Strong transcription	NHDF-Ad	bronchial
42	chr6:28879200-28888400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:28879200-28889400	Strong transcription	Placenta	Placenta
44	chr6:28879400-28889400	Strong transcription	NHEK	skin
45	chr6:28879600-28888400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:28879800-28888400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:28880200-28889400	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr6:28881800-28889800	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr6:28882000-28889600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:28882800-28889400	Strong transcription	iPS-15b Cell Line	embryonic stem cell

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