Variant report

Variant	rs28612256
Chromosome Location	chr14:66171688-66171689
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	chr14:66169539..66172058-chr14:66175074..66177504,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10083327	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10083356	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10129221	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10129828	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10131616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132138	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132575	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10134109	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135224	1.00[AFR][1000 genomes]
rs10138881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10139892	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140494	1.00[AMR][1000 genomes]
rs10141632	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143944	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144478	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144701	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10145479	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146253	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146510	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147262	1.00[AMR][1000 genomes]
rs10162357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10162579	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10220481	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102765	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102767	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17102769	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28370375	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28375638	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28399233	1.00[AMR][1000 genomes]
rs28415772	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28452937	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28482071	1.00[AMR][1000 genomes]
rs28489429	1.00[AMR][1000 genomes]
rs28571055	1.00[AMR][1000 genomes]
rs28682570	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28716649	1.00[AMR][1000 genomes]
rs28789146	1.00[AMR][1000 genomes]
rs28789509	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28808288	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28808905	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28864090	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28890806	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57330939	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73286155	0.90[AFR][1000 genomes]
rs73286159	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036403	chr14:65724229-66208114	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
4	nsv1039168	chr14:65811750-66308343	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
5	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
6	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv976295	chr14:66169959-66172648	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66137000-66189000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr14:66138000-66177400	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr14:66147600-66176000	Weak transcription	Stomach Mucosa	stomach
4	chr14:66156000-66179600	Weak transcription	Primary B cells from peripheral blood	blood
5	chr14:66156200-66172600	Weak transcription	Primary T cells from cord blood	blood
6	chr14:66160800-66174800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:66161200-66172400	Weak transcription	Dnd41	blood
8	chr14:66161600-66174600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr14:66164000-66173200	Weak transcription	Aorta	Aorta
10	chr14:66166400-66173000	Weak transcription	Esophagus	oesophagus
11	chr14:66169800-66189000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr14:66170000-66172400	Enhancers	HSMMtube	muscle
13	chr14:66170200-66171800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr14:66170200-66171800	Enhancers	Osteobl	bone
15	chr14:66170200-66172000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr14:66170200-66172000	Enhancers	Brain Cingulate Gyrus	brain
17	chr14:66170200-66172400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr14:66170400-66171800	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr14:66170400-66171800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr14:66170400-66171800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr14:66170400-66171800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr14:66170400-66171800	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:66170400-66171800	Enhancers	Muscle Satellite Cultured Cells	--
24	chr14:66170400-66171800	Enhancers	Brain Anterior Caudate	brain
25	chr14:66170400-66171800	Enhancers	HSMM	muscle
26	chr14:66170400-66172000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:66170400-66172000	Enhancers	NH-A	brain
28	chr14:66170400-66172200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:66170400-66174200	Weak transcription	Psoas Muscle	Psoas
30	chr14:66170400-66191400	Weak transcription	Gastric	stomach
31	chr14:66170600-66171800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:66170600-66171800	Enhancers	Fetal Lung	lung
33	chr14:66170600-66172000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:66170600-66172000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:66170600-66173000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:66170600-66182200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr14:66170600-66190800	Weak transcription	Small Intestine	intestine
38	chr14:66170800-66172200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:66170800-66172400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr14:66170800-66172400	Enhancers	Fetal Heart	heart
41	chr14:66170800-66174600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:66171000-66171800	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr14:66171000-66172200	Enhancers	Colon Smooth Muscle	Colon
44	chr14:66171000-66172200	Enhancers	NHDF-Ad	bronchial
45	chr14:66171200-66172000	Weak transcription	Brain Angular Gyrus	brain
46	chr14:66171200-66172800	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:66171200-66174800	Weak transcription	Primary B cells from cord blood	blood
48	chr14:66171600-66171800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr14:66171600-66171800	Enhancers	NHLF	lung
50	chr14:66171600-66172000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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