Variant report

Variant	rs72675227
Chromosome Location	chr14:35080199-35080200
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35065006..35067081-chr14:35079257..35081004,2	K562	blood:
2	chr14:35075909..35077812-chr14:35078602..35081587,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs58909728	1.00[EUR][1000 genomes]
rs60183626	0.87[EUR][1000 genomes]
rs67163867	0.87[EUR][1000 genomes]
rs72673460	0.95[EUR][1000 genomes]
rs72673462	0.95[EUR][1000 genomes]
rs72673463	0.87[EUR][1000 genomes]
rs72673478	0.87[EUR][1000 genomes]
rs72675213	1.00[EUR][1000 genomes]
rs72675222	1.00[EUR][1000 genomes]
rs72675225	1.00[EUR][1000 genomes]
rs72675230	0.95[EUR][1000 genomes]
rs72675232	0.95[EUR][1000 genomes]
rs72675239	0.95[EUR][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	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1048408	chr14:34958352-35255592	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1040303	chr14:35040853-35101044	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv542027	chr14:35040853-35101044	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv1038360	chr14:35040853-35152886	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking 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	21 gene(s)	inside rSNPs	diseases
7	esv3408652	chr14:35069966-35110821	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv523334	chr14:35075022-35131862	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35032200-35080600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:35040600-35080400	Strong transcription	Duodenum Mucosa	Duodenum
3	chr14:35041600-35080200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr14:35045800-35089200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr14:35053800-35082200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:35054600-35098400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr14:35058400-35089200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:35060000-35080400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:35060800-35097800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr14:35063000-35098400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:35068400-35098000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:35068600-35089200	Weak transcription	Stomach Mucosa	stomach
13	chr14:35069400-35089400	Weak transcription	Fetal Heart	heart
14	chr14:35070200-35091800	Weak transcription	Psoas Muscle	Psoas
15	chr14:35070400-35098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:35073400-35091800	Weak transcription	Fetal Brain Male	brain
17	chr14:35073600-35097800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:35073800-35088800	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:35074000-35090400	Weak transcription	Fetal Kidney	kidney
20	chr14:35074200-35091800	Weak transcription	K562	blood
21	chr14:35075000-35090200	Strong transcription	Fetal Intestine Small	intestine
22	chr14:35075000-35090400	Weak transcription	Hela-S3	cervix
23	chr14:35076600-35098000	Weak transcription	HSMMtube	muscle
24	chr14:35077000-35091800	Weak transcription	Brain Anterior Caudate	brain
25	chr14:35077000-35093400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr14:35077000-35097600	Weak transcription	Esophagus	oesophagus
27	chr14:35077000-35098600	Weak transcription	Pancreas	Pancrea
28	chr14:35077200-35081400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:35077400-35083400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:35077400-35083600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr14:35077400-35083800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr14:35077400-35085600	Weak transcription	HMEC	breast
33	chr14:35077400-35090200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:35077600-35081200	Weak transcription	Primary T cells from cord blood	blood
35	chr14:35077600-35081600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:35077600-35083800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:35077600-35084000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr14:35077600-35089200	Weak transcription	Brain Hippocampus Middle	brain
39	chr14:35077600-35090200	Weak transcription	Spleen	Spleen
40	chr14:35077600-35090600	Weak transcription	Brain Substantia Nigra	brain
41	chr14:35077600-35091800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr14:35077600-35091800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:35077600-35092200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr14:35077600-35097800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr14:35077600-35098000	Weak transcription	Aorta	Aorta
46	chr14:35077600-35098200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr14:35077600-35098600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:35077800-35081200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr14:35077800-35081400	Weak transcription	Fetal Brain Female	brain
50	chr14:35077800-35084600	Weak transcription	GM12878-XiMat	blood

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