Variant report

Variant	rs72715786
Chromosome Location	chr14:55779570-55779571
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	chr14:55775251..55779667-chr14:55780270..55783872,4	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11626485	0.83[ASN][1000 genomes]
rs11851870	0.83[ASN][1000 genomes]
rs17672298	0.88[EUR][1000 genomes]
rs2039039	0.83[ASN][1000 genomes]
rs57571649	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs68153899	0.88[EUR][1000 genomes]
rs72715709	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72715746	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55768600-55783800	Weak transcription	Right Ventricle	heart
2	chr14:55768800-55786400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:55770800-55783800	Weak transcription	Fetal Kidney	kidney
4	chr14:55773600-55783000	Weak transcription	Pancreas	Pancrea
5	chr14:55774200-55782000	Weak transcription	Fetal Lung	lung
6	chr14:55775000-55783000	Weak transcription	Left Ventricle	heart
7	chr14:55775600-55780400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
8	chr14:55776200-55780200	Weak transcription	Psoas Muscle	Psoas
9	chr14:55776600-55786600	Weak transcription	Fetal Brain Male	brain
10	chr14:55776800-55779800	ZNF genes & repeats	Dnd41	blood
11	chr14:55777000-55780600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
12	chr14:55777000-55792800	Weak transcription	Brain Angular Gyrus	brain
13	chr14:55777000-55795000	Weak transcription	NHDF-Ad	bronchial
14	chr14:55777200-55780200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
15	chr14:55777200-55780400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr14:55777200-55780600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr14:55777200-55783800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:55777200-55799000	Weak transcription	Colon Smooth Muscle	Colon
19	chr14:55777400-55780600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr14:55777400-55782600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
21	chr14:55777400-55795000	Weak transcription	Osteobl	bone
22	chr14:55777400-55799200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr14:55777600-55780400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr14:55777800-55779800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr14:55777800-55780400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
26	chr14:55778000-55779600	Weak transcription	A549	lung
27	chr14:55778000-55780200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr14:55778000-55780800	ZNF genes & repeats	Fetal Intestine Small	intestine
29	chr14:55778000-55781000	ZNF genes & repeats	Fetal Muscle Leg	muscle
30	chr14:55778000-55782600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr14:55778200-55779600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr14:55778200-55779800	ZNF genes & repeats	Thymus	Thymus
33	chr14:55778200-55780600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:55778200-55785200	Weak transcription	Small Intestine	intestine
35	chr14:55778400-55779600	ZNF genes & repeats	Fetal Adrenal Gland	Adrenal Gland
36	chr14:55778400-55779800	ZNF genes & repeats	Fetal Thymus	thymus
37	chr14:55778400-55780800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr14:55778400-55782400	Weak transcription	Stomach Mucosa	stomach
39	chr14:55778600-55779600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr14:55778800-55779600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:55778800-55779600	ZNF genes & repeats	Esophagus	oesophagus
42	chr14:55778800-55779600	ZNF genes & repeats	Fetal Stomach	stomach
43	chr14:55778800-55779600	ZNF genes & repeats	NHEK	skin
44	chr14:55778800-55780000	ZNF genes & repeats	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr14:55778800-55780000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
46	chr14:55778800-55780000	ZNF genes & repeats	Rectal Mucosa Donor 29	rectum
47	chr14:55778800-55780200	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr14:55778800-55780200	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
49	chr14:55778800-55780200	ZNF genes & repeats	Fetal Intestine Large	intestine
50	chr14:55778800-55780200	ZNF genes & repeats	HMEC	breast

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