Variant report

Variant	rs74060230
Chromosome Location	chr14:70089853-70089854
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70083322..70086232-chr14:70086631..70089872,4	K562	blood:
2	chr14:70086712..70090061-chr14:70093256..70096092,3	K562	blood:
3	chr14:70081817..70084192-chr14:70088669..70091268,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17107167	0.92[AFR][1000 genomes]
rs58291537	1.00[AFR][1000 genomes]
rs58658815	0.92[AFR][1000 genomes]
rs60146581	1.00[AFR][1000 genomes]
rs61606958	0.92[AFR][1000 genomes]
rs74060216	0.92[AFR][1000 genomes]
rs74060217	1.00[AFR][1000 genomes]
rs74060224	1.00[AFR][1000 genomes]
rs74060254	0.92[AFR][1000 genomes]
rs74060255	0.92[AFR][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	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70079600-70095800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:70080400-70102800	Weak transcription	Fetal Brain Female	brain
3	chr14:70080800-70092000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr14:70082400-70092000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:70082400-70092000	Weak transcription	Gastric	stomach
6	chr14:70082400-70092200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr14:70082600-70092600	Weak transcription	Esophagus	oesophagus
8	chr14:70083000-70092000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr14:70083000-70092000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr14:70083200-70091800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:70083200-70092000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr14:70083200-70092000	Enhancers	Primary T cells from cord blood	blood
13	chr14:70083200-70092000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr14:70083200-70092000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr14:70083400-70090000	Weak transcription	HUVEC	blood vessel
16	chr14:70083400-70091800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr14:70083400-70092000	Weak transcription	Fetal Stomach	stomach
18	chr14:70083400-70093400	Enhancers	Brain Hippocampus Middle	brain
19	chr14:70083400-70095200	Weak transcription	Fetal Intestine Large	intestine
20	chr14:70083400-70097800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:70083800-70092000	Weak transcription	Colonic Mucosa	Colon
22	chr14:70083800-70092000	Weak transcription	HSMM	muscle
23	chr14:70084000-70091800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:70084400-70092000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr14:70084400-70092000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr14:70084800-70091800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr14:70084800-70092200	Weak transcription	Fetal Intestine Small	intestine
28	chr14:70085000-70092000	Weak transcription	NH-A	brain
29	chr14:70085400-70091800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr14:70085400-70092000	Weak transcription	Fetal Lung	lung
31	chr14:70085400-70092000	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr14:70085400-70092200	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:70085800-70091800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr14:70086000-70091800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr14:70086400-70092000	Weak transcription	Right Ventricle	heart
36	chr14:70086600-70091800	Weak transcription	NHLF	lung
37	chr14:70086800-70091800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:70086800-70092000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:70086800-70092200	Weak transcription	Aorta	Aorta
40	chr14:70086800-70092400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr14:70087000-70091200	Weak transcription	Left Ventricle	heart
42	chr14:70087000-70092000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:70087200-70091800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr14:70087200-70091800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
45	chr14:70087200-70092000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:70087200-70100000	Weak transcription	NHEK	skin
47	chr14:70087400-70092000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr14:70087400-70092000	Weak transcription	HSMMtube	muscle
49	chr14:70087800-70092000	Weak transcription	Rectal Smooth Muscle	rectum
50	chr14:70088000-70090800	Enhancers	Primary T helper cells PMA-I stimulated	--

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