Variant report

Variant	rs4631520
Chromosome Location	chr9:101821179-101821180
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:101819756..101821876-chr9:101984546..101986258,2	K562	blood:
2	chr9:101820521..101822703-chr9:101866221..101868544,2	MCF-7	breast:
3	chr9:101778237..101780848-chr9:101819627..101821830,2	K562	blood:
4	chr9:101819637..101822232-chr9:101894406..101896072,2	K562	blood:
5	chr9:101797638..101801423-chr9:101817658..101821818,3	K562	blood:

Variant related genes	Relation type
ENSG00000106803	Chromatin interaction
ENSG00000204291	Chromatin interaction
ENSG00000106799	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10512262	0.82[ASN][1000 genomes]
rs12001981	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12352174	0.83[ASN][1000 genomes]
rs13291453	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs13296166	0.84[ASN][1000 genomes]
rs13302368	0.84[ASN][1000 genomes]
rs1537505	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1537506	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16918146	0.81[ASN][1000 genomes]
rs16918148	0.84[ASN][1000 genomes]
rs16918154	0.84[ASN][1000 genomes]
rs16918163	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2067986	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34382379	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34654420	0.84[ASN][1000 genomes]
rs34749011	0.82[ASN][1000 genomes]
rs35413276	0.82[ASN][1000 genomes]
rs4563947	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6478969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7019613	1.00[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7036916	0.84[ASN][1000 genomes]
rs7854112	0.82[ASN][1000 genomes]
rs7857774	0.94[CHB][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893618	chr9:101800106-101886071	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101793800-101837600	Weak transcription	Psoas Muscle	Psoas
2	chr9:101807000-101831800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr9:101807600-101831800	Strong transcription	Fetal Muscle Leg	muscle
4	chr9:101809200-101821600	Weak transcription	Brain Anterior Caudate	brain
5	chr9:101813200-101833000	Weak transcription	Lung	lung
6	chr9:101813600-101825600	Weak transcription	Aorta	Aorta
7	chr9:101814200-101826600	Weak transcription	Fetal Intestine Large	intestine
8	chr9:101814200-101829400	Weak transcription	Fetal Intestine Small	intestine
9	chr9:101815600-101821400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr9:101816200-101844200	Weak transcription	Gastric	stomach
11	chr9:101816800-101821200	Enhancers	HMEC	breast
12	chr9:101816800-101822400	Enhancers	Osteobl	bone
13	chr9:101817000-101821600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr9:101818000-101834800	Weak transcription	Pancreas	Pancrea
15	chr9:101818800-101823600	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr9:101818800-101829000	Weak transcription	Ovary	ovary
17	chr9:101819000-101821600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr9:101819000-101822000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr9:101819200-101821600	Enhancers	NHDF-Ad	bronchial
20	chr9:101819200-101822400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr9:101819200-101822400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr9:101819400-101821200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr9:101819400-101821400	Genic enhancers	Adipose Nuclei	Adipose
24	chr9:101819400-101821800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:101819400-101821800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr9:101819400-101822000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr9:101819400-101822200	Enhancers	NHLF	lung
28	chr9:101819400-101822400	Enhancers	Spleen	Spleen
29	chr9:101819600-101822200	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr9:101819600-101822200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr9:101819600-101822200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr9:101819800-101821200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
33	chr9:101819800-101821200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr9:101819800-101821200	Genic enhancers	HSMMtube	muscle
35	chr9:101819800-101821600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:101819800-101821800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
37	chr9:101819800-101821800	Genic enhancers	Rectal Smooth Muscle	rectum
38	chr9:101819800-101822200	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr9:101819800-101822200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
40	chr9:101819800-101822200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr9:101819800-101823400	Strong transcription	Fetal Stomach	stomach
42	chr9:101820000-101821200	Genic enhancers	Placenta	Placenta
43	chr9:101820000-101821400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr9:101820000-101821600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr9:101820000-101822000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:101820000-101822200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
47	chr9:101820000-101822200	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr9:101820000-101822400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr9:101820000-101822400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr9:101820000-101823200	Enhancers	Rectal Mucosa Donor 31	rectum

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