Variant report

Variant	rs9838011
Chromosome Location	chr3:191100642-191100643
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:64009037..64009652-chr3:191100513..191101366,2	MCF-7	breast:
2	chr3:191100096..191102827-chr3:191111018..191112794,2	K562	blood:
3	chr3:191096520..191099526-chr3:191099935..191102784,3	K562	blood:
4	chr3:191093711..191095973-chr3:191100119..191102866,3	K562	blood:

Variant related genes	Relation type
ENSG00000163636	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11918771	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12633312	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12635242	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2028573	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28396104	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28627146	0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60167114	0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6444540	0.86[ASN][1000 genomes]
rs6444542	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66809497	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67382556	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6774730	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6797930	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73185212	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7636627	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7636707	1.00[ASN][1000 genomes]
rs7640087	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7648303	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs920032	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9821594	0.86[ASN][1000 genomes]
rs9834749	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9838014	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9841435	0.95[ASN][1000 genomes]
rs9860740	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9985271	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931943	chr3:190860224-191321873	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2757910	chr3:190867011-191279107	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv2759209	chr3:190867011-191279107	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv428428	chr3:190936834-191215596	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv998208	chr3:191021434-191175350	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv534269	chr3:191037181-191261730	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:191071200-191114000	Weak transcription	Colonic Mucosa	Colon
2	chr3:191072600-191100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr3:191079400-191115800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:191079600-191116400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:191079600-191121200	Weak transcription	Gastric	stomach
6	chr3:191080200-191110200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr3:191080200-191118800	Weak transcription	Pancreas	Pancrea
8	chr3:191080600-191110400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr3:191087000-191115400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr3:191087800-191109200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:191088000-191109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr3:191088600-191119600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr3:191093400-191119400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr3:191093400-191121400	Weak transcription	Esophagus	oesophagus
15	chr3:191094800-191102200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr3:191094800-191114800	Weak transcription	A549	lung
17	chr3:191095000-191107600	Weak transcription	Fetal Intestine Small	intestine
18	chr3:191096000-191130200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr3:191096400-191101400	Strong transcription	NH-A	brain
20	chr3:191096400-191109600	Weak transcription	Brain Angular Gyrus	brain
21	chr3:191096600-191101800	Strong transcription	Hela-S3	cervix
22	chr3:191096600-191105800	Weak transcription	Brain Substantia Nigra	brain
23	chr3:191096600-191114800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:191097000-191101000	Strong transcription	Placenta	Placenta
25	chr3:191097200-191109200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr3:191097400-191101200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:191097400-191101400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr3:191097400-191101800	Strong transcription	HUVEC	blood vessel
29	chr3:191097400-191102200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr3:191097400-191103200	Strong transcription	Liver	Liver
31	chr3:191097400-191103400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:191097600-191101200	Strong transcription	NHEK	skin
33	chr3:191097600-191102600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr3:191097600-191103000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr3:191097800-191101600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr3:191097800-191101800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr3:191098000-191100800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr3:191098000-191101000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:191098000-191101200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr3:191098000-191102400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr3:191098000-191102800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr3:191098000-191111400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
43	chr3:191098200-191101000	Strong transcription	Fetal Kidney	kidney
44	chr3:191098200-191101000	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr3:191098200-191101200	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr3:191098200-191101200	Strong transcription	Fetal Intestine Large	intestine
47	chr3:191098200-191102000	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr3:191098400-191100800	Strong transcription	Adipose Nuclei	Adipose
49	chr3:191098400-191100800	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr3:191098400-191101200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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