Variant report

Variant	rs12433708
Chromosome Location	chr14:63937832-63937833
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:63932729..63935549-chr14:63936370..63938209,3	MCF-7	breast:
2	chr1:222817534..222818111-chr14:63937651..63938155,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:99)

rs_ID	r²[population]
rs1012145	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10129170	0.80[EUR][1000 genomes]
rs10130074	0.82[EUR][1000 genomes]
rs10132996	0.82[EUR][1000 genomes]
rs10133014	0.81[EUR][1000 genomes]
rs10137243	0.82[EUR][1000 genomes]
rs10137279	0.81[EUR][1000 genomes]
rs10138187	0.82[EUR][1000 genomes]
rs10138274	0.82[EUR][1000 genomes]
rs10138372	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs10139028	0.83[EUR][1000 genomes]
rs10139725	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10141179	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10144700	0.82[EUR][1000 genomes]
rs10145422	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10146848	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10148960	0.86[CEU][hapmap];0.83[CHB][hapmap];0.91[GIH][hapmap];0.93[JPT][hapmap];0.86[TSI][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10149549	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs10152067	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs1033742	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs1033744	0.82[EUR][1000 genomes]
rs1033745	0.82[GIH][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs10483773	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs11158492	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs11850808	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12323479	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs12434321	0.82[EUR][1000 genomes]
rs1475040	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs17093492	0.82[EUR][1000 genomes]
rs17101205	0.82[EUR][1000 genomes]
rs17101207	0.82[EUR][1000 genomes]
rs17101238	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs17101242	0.85[CEU][hapmap]
rs17225252	0.82[EUR][1000 genomes]
rs17225266	0.82[EUR][1000 genomes]
rs1951212	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs1951213	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs1957045	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs2064955	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28372244	0.83[EUR][1000 genomes]
rs28394515	0.80[EUR][1000 genomes]
rs28496722	0.80[EUR][1000 genomes]
rs28522688	0.81[EUR][1000 genomes]
rs28560307	0.82[EUR][1000 genomes]
rs28579385	0.83[EUR][1000 genomes]
rs28592209	0.82[EUR][1000 genomes]
rs28620591	0.82[EUR][1000 genomes]
rs28639496	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28683743	0.82[EUR][1000 genomes]
rs28696283	0.81[EUR][1000 genomes]
rs28711489	0.82[EUR][1000 genomes]
rs28758626	0.83[EUR][1000 genomes]
rs3783741	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs3783743	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs4391977	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs4899113	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs4902226	0.82[EUR][1000 genomes]
rs4902227	0.82[EUR][1000 genomes]
rs4902230	0.86[CEU][hapmap];0.83[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4902231	0.86[CEU][hapmap];0.80[GIH][hapmap];0.93[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs57670001	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60644154	0.82[EUR][1000 genomes]
rs61627079	0.81[EUR][1000 genomes]
rs6573517	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573518	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs6573519	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs6573520	0.82[EUR][1000 genomes]
rs6573521	0.99[EUR][1000 genomes]
rs7140763	0.82[EUR][1000 genomes]
rs7143816	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs7144120	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs7147222	0.83[EUR][1000 genomes]
rs7152839	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs7153764	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs7154559	0.80[EUR][1000 genomes]
rs7161634	0.82[EUR][1000 genomes]
rs72714239	0.83[EUR][1000 genomes]
rs72714243	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72714258	0.84[EUR][1000 genomes]
rs72714280	0.80[EUR][1000 genomes]
rs8003115	0.81[EUR][1000 genomes]
rs8003144	0.83[EUR][1000 genomes]
rs8003246	0.82[EUR][1000 genomes]
rs8003647	0.93[CEU][hapmap];0.83[EUR][1000 genomes]
rs8003956	0.83[EUR][1000 genomes]
rs8004170	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs8006981	0.82[EUR][1000 genomes]
rs8007996	0.80[EUR][1000 genomes]
rs8008684	0.87[CEU][hapmap];0.82[EUR][1000 genomes]
rs8011488	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8012085	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8014486	0.80[EUR][1000 genomes]
rs8016306	0.80[EUR][1000 genomes]
rs8017184	0.82[EUR][1000 genomes]
rs8018107	0.87[CEU][hapmap];0.80[EUR][1000 genomes]
rs8018128	0.81[EUR][1000 genomes]
rs8018307	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs8018721	0.82[EUR][1000 genomes]
rs8022113	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63919800-63938200	Weak transcription	Fetal Thymus	thymus
2	chr14:63920000-63939200	Weak transcription	Thymus	Thymus
3	chr14:63921000-63944600	Weak transcription	Dnd41	blood
4	chr14:63922000-63938200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:63922000-63941600	Weak transcription	Fetal Muscle Leg	muscle
6	chr14:63922200-63938000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr14:63922200-63939000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr14:63928000-63939600	Weak transcription	Primary B cells from cord blood	blood
9	chr14:63928000-63940600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:63930200-63950200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:63931200-63959600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:63933600-63938200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:63933600-63939400	Weak transcription	Fetal Heart	heart
14	chr14:63934200-63939600	Weak transcription	Colonic Mucosa	Colon
15	chr14:63934400-63938600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr14:63934400-63939400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr14:63934400-63946400	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr14:63934600-63940600	Weak transcription	Brain Substantia Nigra	brain
19	chr14:63934800-63939200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:63935000-63939400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr14:63935000-63939600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:63935200-63938000	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:63935200-63939600	Enhancers	Primary T killer memory cells from peripheral blood	blood
24	chr14:63935400-63938000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr14:63935400-63938200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:63935400-63938600	Weak transcription	Aorta	Aorta
27	chr14:63935400-63939600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:63935400-63958800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:63936000-63940400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:63936000-63942600	Weak transcription	Primary T cells from cord blood	blood
31	chr14:63936000-63945200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr14:63936200-63938000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr14:63936600-63938800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr14:63936800-63939000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:63936800-63939000	Enhancers	Psoas Muscle	Psoas
36	chr14:63936800-63940400	Enhancers	Small Intestine	intestine
37	chr14:63936800-63941800	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr14:63937000-63938200	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr14:63937000-63938600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:63937000-63938600	Enhancers	Brain Hippocampus Middle	brain
41	chr14:63937000-63938600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:63937000-63938800	Enhancers	Stomach Mucosa	stomach
43	chr14:63937000-63938800	Enhancers	HMEC	breast
44	chr14:63937000-63941200	Enhancers	Liver	Liver
45	chr14:63937000-63941600	Weak transcription	Right Atrium	heart
46	chr14:63937200-63938400	Weak transcription	Lung	lung
47	chr14:63937200-63938400	Weak transcription	Pancreas	Pancrea
48	chr14:63937200-63938600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:63937200-63939400	Weak transcription	Spleen	Spleen
50	chr14:63937200-63940800	Enhancers	NHEK	skin

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