Variant report

Variant	rs9811453
Chromosome Location	chr3:47798700-47798701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47798148..47800331-chr3:47801413..47803600,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10440114	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs12330471	1.00[ASN][1000 genomes]
rs28481993	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28482816	0.85[ASN][1000 genomes]
rs28489183	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28523573	0.85[ASN][1000 genomes]
rs28673790	0.85[ASN][1000 genomes]
rs28798409	1.00[ASN][1000 genomes]
rs28856316	1.00[ASN][1000 genomes]
rs56196081	1.00[ASN][1000 genomes]
rs58125955	0.86[ASN][1000 genomes]
rs6805353	1.00[ASN][1000 genomes]
rs73831518	1.00[ASN][1000 genomes]
rs73831522	1.00[ASN][1000 genomes]
rs73831524	1.00[ASN][1000 genomes]
rs73831530	1.00[ASN][1000 genomes]
rs73834335	0.81[ASN][1000 genomes]
rs7611732	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7621426	0.86[ASN][1000 genomes]
rs7622877	0.86[ASN][1000 genomes]
rs7641111	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7649277	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9311413	0.85[ASN][1000 genomes]
rs9812111	0.86[ASN][1000 genomes]
rs9814332	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9816531	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9823124	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs9830888	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs9831180	0.85[ASN][1000 genomes]
rs9832699	1.00[ASN][1000 genomes]
rs9835477	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9837826	1.00[AFR][1000 genomes]
rs9837843	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9844664	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9844808	0.85[ASN][1000 genomes]
rs9846669	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs9847644	1.00[ASN][1000 genomes]
rs9847722	0.85[ASN][1000 genomes]
rs9848332	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9855149	1.00[JPT][hapmap]
rs9856209	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9861663	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9865126	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs9865443	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs9867962	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9873267	0.85[ASN][1000 genomes]
rs9883868	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	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv876758	chr3:47681881-47842234	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
3	nsv876759	chr3:47725315-47830741	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	167 gene(s)	inside rSNPs	diseases
5	nsv590233	chr3:47798700-47829277	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 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	chr3:47701600-47800400	Strong transcription	Dnd41	blood
2	chr3:47701600-47819800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr3:47727600-47819400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47769600-47812400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr3:47769800-47817800	Weak transcription	Pancreas	Pancrea
6	chr3:47772800-47821000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr3:47774200-47799000	Weak transcription	NHEK	skin
8	chr3:47774200-47820600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:47777000-47817600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr3:47777200-47801400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr3:47777200-47805200	Weak transcription	Esophagus	oesophagus
12	chr3:47777200-47812400	Weak transcription	Brain Hippocampus Middle	brain
13	chr3:47777200-47813600	Weak transcription	A549	lung
14	chr3:47777200-47819000	Weak transcription	Fetal Brain Male	brain
15	chr3:47777200-47819800	Weak transcription	Small Intestine	intestine
16	chr3:47777400-47799600	Weak transcription	Spleen	Spleen
17	chr3:47777400-47802000	Weak transcription	Aorta	Aorta
18	chr3:47777400-47805400	Weak transcription	Gastric	stomach
19	chr3:47777400-47805600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:47777400-47812600	Weak transcription	Colon Smooth Muscle	Colon
21	chr3:47777400-47819800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr3:47777400-47821000	Weak transcription	Brain Cingulate Gyrus	brain
23	chr3:47777400-47821000	Weak transcription	Brain Substantia Nigra	brain
24	chr3:47777400-47821800	Weak transcription	Right Ventricle	heart
25	chr3:47777600-47812800	Weak transcription	NHDF-Ad	bronchial
26	chr3:47777600-47820600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr3:47777600-47820800	Weak transcription	NHLF	lung
28	chr3:47777800-47802000	Weak transcription	Fetal Kidney	kidney
29	chr3:47778800-47805400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:47778800-47814200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:47781200-47802600	Weak transcription	Ovary	ovary
32	chr3:47784000-47816000	Strong transcription	Fetal Stomach	stomach
33	chr3:47784400-47811800	Weak transcription	Left Ventricle	heart
34	chr3:47784800-47799400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:47784800-47820800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr3:47785200-47805400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:47785600-47803600	Weak transcription	Fetal Heart	heart
38	chr3:47786400-47805400	Weak transcription	Stomach Smooth Muscle	stomach
39	chr3:47786600-47805000	Weak transcription	HMEC	breast
40	chr3:47786600-47814200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr3:47787200-47801800	Weak transcription	Fetal Lung	lung
42	chr3:47787200-47808200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:47787200-47811000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr3:47787400-47801400	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr3:47787400-47805400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr3:47787400-47808000	Weak transcription	Adipose Nuclei	Adipose
47	chr3:47787400-47811800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr3:47787400-47812600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr3:47787400-47820800	Weak transcription	Brain Angular Gyrus	brain
50	chr3:47787600-47805600	Weak transcription	Primary hematopoietic stem cells	blood

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