Variant report

Variant	rs8139853
Chromosome Location	chr22:30230656-30230657
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30221897..30227952-chr22:30230604..30235599,8	MCF-7	breast:
2	chr22:30228718..30231367-chr22:30232651..30236541,5	K562	blood:
3	chr22:30228546..30230856-chr22:30232707..30235317,4	MCF-7	breast:
4	chr22:30225765..30230715-chr22:30232604..30236000,6	K562	blood:
5	chr22:30161269..30163676-chr22:30230353..30231980,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100319	Chromatin interaction
ENSG00000100325	Chromatin interaction
ENSG00000184076	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs16988135	0.82[YRI][hapmap]
rs7284643	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7290789	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs73883336	1.00[AFR][1000 genomes]
rs73883346	1.00[AFR][1000 genomes]
rs73883350	1.00[AFR][1000 genomes]
rs73883357	1.00[AFR][1000 genomes]
rs73883361	1.00[AFR][1000 genomes]
rs73883362	1.00[AFR][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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
3	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
4	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr22:30183400-30230800	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr22:30183800-30232200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr22:30203600-30233400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr22:30208800-30231000	Strong transcription	Brain Germinal Matrix	brain
9	chr22:30208800-30231200	Strong transcription	Lung	lung
10	chr22:30208800-30233400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr22:30209800-30233600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr22:30215000-30230800	Strong transcription	Fetal Brain Female	brain
13	chr22:30215200-30233200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr22:30218000-30231000	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr22:30218200-30232200	Strong transcription	Fetal Intestine Small	intestine
16	chr22:30218400-30233000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr22:30218600-30233400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr22:30219000-30232000	Weak transcription	Fetal Brain Male	brain
19	chr22:30219600-30233400	Weak transcription	Fetal Kidney	kidney
20	chr22:30220000-30231600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr22:30221400-30233400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr22:30221600-30233400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr22:30221800-30233400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr22:30221800-30233600	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr22:30222000-30232800	Weak transcription	Hela-S3	cervix
26	chr22:30222000-30233600	Weak transcription	Small Intestine	intestine
27	chr22:30223000-30231000	Strong transcription	Primary B cells from cord blood	blood
28	chr22:30223000-30231200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr22:30223000-30231600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:30223000-30232200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr22:30223000-30232200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr22:30223000-30232200	Strong transcription	Stomach Smooth Muscle	stomach
33	chr22:30223400-30231600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr22:30223800-30231200	Strong transcription	Duodenum Mucosa	Duodenum
35	chr22:30224000-30230800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:30224200-30233200	Weak transcription	Right Atrium	heart
37	chr22:30224400-30230800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:30224400-30230800	Strong transcription	Brain Hippocampus Middle	brain
39	chr22:30224400-30231000	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr22:30224400-30232000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr22:30224400-30232000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:30224800-30233000	Weak transcription	Pancreas	Pancrea
43	chr22:30225000-30232200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr22:30225200-30231000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr22:30225400-30231000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr22:30225800-30230800	Strong transcription	NHEK	skin
47	chr22:30225800-30231200	Strong transcription	Fetal Intestine Large	intestine
48	chr22:30225800-30231200	Strong transcription	Ovary	ovary
49	chr22:30225800-30232000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:30226000-30230800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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