Variant report

Variant	rs7030222
Chromosome Location	chr9:93609066-93609067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:93603689..93605375-chr9:93607023..93609459,2	K562	blood:
2	chr9:93561974..93565264-chr9:93607665..93610722,3	MCF-7	breast:
3	chr9:93607214..93610736-chr9:93616305..93618724,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165025	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11787537	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs12004706	0.86[ASN][1000 genomes]
rs12555502	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17489214	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35758162	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56222210	0.86[ASN][1000 genomes]
rs62559143	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62559145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62559146	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72729051	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855964	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046989	chr9:93353987-93800416	Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv893567	chr9:93519280-93609668	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv831652	chr9:93527411-93696923	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv893568	chr9:93539879-93774385	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1038685	chr9:93556174-93685729	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1039761	chr9:93598856-93677831	Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1039326	chr9:93598856-93685729	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 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	chr9:93599200-93616600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:93600200-93613800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:93601800-93642200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:93602600-93609200	Weak transcription	Right Ventricle	heart
5	chr9:93604400-93616200	Weak transcription	HMEC	breast
6	chr9:93604800-93612400	Weak transcription	Placenta	Placenta
7	chr9:93604800-93616600	Weak transcription	NHEK	skin
8	chr9:93604800-93617200	Strong transcription	Spleen	Spleen
9	chr9:93605000-93616400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr9:93605000-93622800	Weak transcription	Adipose Nuclei	Adipose
11	chr9:93605000-93633000	Weak transcription	Fetal Kidney	kidney
12	chr9:93605200-93616400	Weak transcription	K562	blood
13	chr9:93605400-93612400	Strong transcription	Gastric	stomach
14	chr9:93605400-93614200	Strong transcription	Fetal Stomach	stomach
15	chr9:93605600-93612600	Strong transcription	GM12878-XiMat	blood
16	chr9:93605600-93615600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr9:93605600-93617400	Strong transcription	Thymus	Thymus
18	chr9:93605800-93621400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr9:93605800-93621600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr9:93605800-93631000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr9:93606000-93615600	Strong transcription	Fetal Thymus	thymus
22	chr9:93606000-93616600	Strong transcription	Fetal Intestine Small	intestine
23	chr9:93606000-93619600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr9:93606200-93612000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:93606200-93615600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr9:93606200-93615600	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr9:93606200-93616200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr9:93606200-93616400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:93606200-93616800	Strong transcription	Primary hematopoietic stem cells	blood
30	chr9:93606400-93616200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr9:93606400-93616400	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr9:93606600-93610400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr9:93606600-93611200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:93606600-93611200	Strong transcription	Stomach Mucosa	stomach
35	chr9:93606600-93615000	Weak transcription	Liver	Liver
36	chr9:93606600-93615600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:93606600-93617400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr9:93606600-93619200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr9:93606800-93609400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr9:93606800-93609800	Weak transcription	Lung	lung
41	chr9:93607000-93620000	Strong transcription	Primary B cells from cord blood	blood
42	chr9:93607600-93609200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr9:93607600-93614000	Strong transcription	Fetal Intestine Large	intestine
44	chr9:93607800-93610000	Enhancers	Psoas Muscle	Psoas
45	chr9:93607800-93612600	Strong transcription	Esophagus	oesophagus
46	chr9:93608200-93611000	Weak transcription	Colonic Mucosa	Colon
47	chr9:93608200-93624400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr9:93608400-93611200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr9:93608800-93613200	Strong transcription	Pancreas	Pancrea
50	chr9:93609000-93609600	Enhancers	Left Ventricle	heart

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