Variant report

Variant	rs9814744
Chromosome Location	chr3:120486950-120486951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120474492..120477463-chr3:120486835..120489178,2	K562	blood:
2	chr3:120459987..120462376-chr3:120486365..120489094,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153767	Chromatin interaction
ENSG00000144840	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10511404	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11714961	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12489104	1.00[YRI][hapmap]
rs13316584	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1566988	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs167722	0.86[ASN][1000 genomes]
rs172819	0.83[CHB][hapmap];0.83[JPT][hapmap];0.85[ASN][1000 genomes]
rs178725	0.87[ASN][1000 genomes]
rs2288096	1.00[YRI][hapmap]
rs2292719	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs373188	0.87[ASN][1000 genomes]
rs417061	0.84[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs4501055	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs519336	0.83[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs55831173	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56406902	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs607953	0.83[CHB][hapmap];0.81[JPT][hapmap];0.87[ASN][1000 genomes]
rs618642	0.83[CHB][hapmap];0.81[JPT][hapmap];0.86[ASN][1000 genomes]
rs6778859	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6796222	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73183726	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7430785	1.00[YRI][hapmap]
rs7620570	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7633399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9838458	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9854081	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9872831	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9985346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1005396	chr3:120460741-120580319	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
7	nsv829700	chr3:120469191-120675763	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv1012541	chr3:120482402-120580319	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv1014477	chr3:120482402-120583166	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120462600-120495200	Weak transcription	Aorta	Aorta
2	chr3:120462800-120499800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:120462800-120500000	Weak transcription	Gastric	stomach
4	chr3:120462800-120503000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:120463000-120493600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr3:120463000-120496000	Weak transcription	Fetal Lung	lung
7	chr3:120463000-120499800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:120463000-120502000	Weak transcription	Colonic Mucosa	Colon
9	chr3:120463000-120504200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr3:120463000-120504800	Weak transcription	Fetal Brain Male	brain
11	chr3:120463200-120492000	Weak transcription	Thymus	Thymus
12	chr3:120463200-120494000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr3:120463200-120495200	Weak transcription	Fetal Intestine Small	intestine
14	chr3:120463400-120497000	Weak transcription	Fetal Kidney	kidney
15	chr3:120463400-120503000	Weak transcription	Small Intestine	intestine
16	chr3:120464000-120489600	Weak transcription	NHDF-Ad	bronchial
17	chr3:120470200-120499600	Weak transcription	HSMMtube	muscle
18	chr3:120470200-120499800	Weak transcription	Lung	lung
19	chr3:120470400-120489600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr3:120470600-120490200	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr3:120470800-120490400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:120471400-120489600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr3:120471600-120491200	Weak transcription	Placenta	Placenta
24	chr3:120471600-120491600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr3:120471800-120489800	Weak transcription	Fetal Intestine Large	intestine
26	chr3:120472000-120489400	Weak transcription	Primary T cells from cord blood	blood
27	chr3:120472400-120495200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:120472600-120493200	Weak transcription	Duodenum Mucosa	Duodenum
29	chr3:120473000-120489600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:120473200-120489400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr3:120473200-120489600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr3:120473600-120489600	Weak transcription	HUVEC	blood vessel
33	chr3:120473600-120495400	Weak transcription	Hela-S3	cervix
34	chr3:120474000-120489000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:120474000-120489400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr3:120475000-120493200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:120475200-120489600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr3:120475200-120489600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:120475200-120489600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:120475200-120489600	Weak transcription	Dnd41	blood
41	chr3:120475200-120490200	Weak transcription	Fetal Thymus	thymus
42	chr3:120475400-120487600	Weak transcription	HSMM	muscle
43	chr3:120476800-120489000	Weak transcription	Primary B cells from peripheral blood	blood
44	chr3:120477000-120490200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:120477200-120489400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr3:120477600-120488800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr3:120477600-120489600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr3:120477600-120491000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:120477600-120491400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr3:120477800-120489600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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