Variant report

Variant	rs12433987
Chromosome Location	chr14:39836517-39836518
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39736148..39737834-chr14:39835119..39837350,2	K562	blood:
2	chr14:39644496..39646645-chr14:39835925..39838040,2	MCF-7	breast:
3	chr14:39571533..39573983-chr14:39833782..39838007,3	MCF-7	breast:
4	chr14:39575600..39579007-chr14:39836151..39839411,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258651	Chromatin interaction
ENSG00000100934	Chromatin interaction
ENSG00000258591	Chromatin interaction
ENSG00000150527	Chromatin interaction
ENSG00000258940	Chromatin interaction
ENSG00000259083	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10047876	1.00[CHB][hapmap];0.82[JPT][hapmap];0.91[AFR][1000 genomes]
rs10130181	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10132190	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133746	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10134065	0.93[ASN][1000 genomes]
rs10136490	1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap]
rs10136915	0.83[AFR][1000 genomes]
rs10140997	1.00[CHB][hapmap];0.85[JPT][hapmap];0.83[AMR][1000 genomes]
rs10142029	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10143148	0.91[AFR][1000 genomes]
rs10144377	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10145757	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10146622	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs10147286	1.00[CEU][hapmap];1.00[CHB][hapmap]
rs10220689	1.00[CHB][hapmap];0.86[JPT][hapmap];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10483538	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12185014	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12437261	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs17109168	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17622868	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17693279	1.00[YRI][hapmap]
rs1955716	0.85[CHB][hapmap]
rs1998885	0.86[CHB][hapmap]
rs1998886	0.86[CHB][hapmap]
rs2103795	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2179973	0.83[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2415541	1.00[YRI][hapmap]
rs28398804	0.85[ASN][1000 genomes]
rs28419351	0.85[ASN][1000 genomes]
rs28454173	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs28568594	0.85[ASN][1000 genomes]
rs28571663	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28630597	0.83[AFR][1000 genomes]
rs28704775	0.85[ASN][1000 genomes]
rs28756493	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28823387	0.83[AMR][1000 genomes]
rs28871954	0.85[ASN][1000 genomes]
rs2899887	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];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3783291	0.82[CHB][hapmap]
rs4316662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902458	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap]
rs4902559	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61999073	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs61999077	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61999079	1.00[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs62000686	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62000696	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62000708	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62000709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62000710	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62000711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62000715	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62000720	0.86[ASN][1000 genomes]
rs62001106	0.85[ASN][1000 genomes]
rs62015674	0.91[AFR][1000 genomes]
rs62015677	0.91[AFR][1000 genomes]
rs7146753	0.85[ASN][1000 genomes]
rs7155173	1.00[YRI][hapmap]
rs7156962	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7158282	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7161482	0.91[AFR][1000 genomes]
rs8006076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8007036	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9322999	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs9805937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv3363508	chr14:39836328-39836632	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:39770800-39872400	Weak transcription	Colonic Mucosa	Colon
3	chr14:39792800-39841600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr14:39794400-39843200	Weak transcription	HUVEC	blood vessel
5	chr14:39797000-39837400	Weak transcription	Brain Substantia Nigra	brain
6	chr14:39802000-39841200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:39802800-39839400	Weak transcription	Aorta	Aorta
8	chr14:39803000-39845800	Weak transcription	NHEK	skin
9	chr14:39803200-39838400	Weak transcription	Thymus	Thymus
10	chr14:39803200-39843400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:39803200-39845800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:39803400-39843800	Weak transcription	HMEC	breast
13	chr14:39808400-39841200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr14:39812200-39845800	Weak transcription	Stomach Mucosa	stomach
15	chr14:39816800-39836600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr14:39816800-39843200	Weak transcription	Hela-S3	cervix
17	chr14:39816800-39850200	Weak transcription	Fetal Kidney	kidney
18	chr14:39817400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:39818200-39837200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:39818200-39839400	Weak transcription	Stomach Smooth Muscle	stomach
21	chr14:39818800-39845200	Weak transcription	Placenta	Placenta
22	chr14:39818800-39867200	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr14:39823000-39839200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:39826000-39843200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:39829000-39839400	Weak transcription	Ovary	ovary
26	chr14:39829600-39839400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr14:39833800-39839600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:39833800-39841400	Weak transcription	Osteobl	bone
29	chr14:39834000-39837400	Weak transcription	A549	lung
30	chr14:39834000-39851600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr14:39834200-39836800	Weak transcription	Liver	Liver
32	chr14:39834400-39839800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:39834600-39839400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:39834600-39839400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr14:39834600-39839400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr14:39834600-39839400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:39834600-39839400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr14:39834600-39839400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr14:39834600-39846000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr14:39834600-39851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:39834800-39837600	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr14:39834800-39837800	Strong transcription	Primary B cells from cord blood	blood
43	chr14:39834800-39839000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:39834800-39839400	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr14:39834800-39839400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:39834800-39839400	Weak transcription	Adipose Nuclei	Adipose
47	chr14:39834800-39840800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr14:39834800-39846000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr14:39835000-39837000	Strong transcription	Fetal Intestine Small	intestine
50	chr14:39835000-39841000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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