Variant report

Variant	rs17127740
Chromosome Location	chr14:55140843-55140844
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55135659..55139164-chr14:55139185..55142242,3	K562	blood:
2	chr14:55140112..55141915-chr14:55141999..55144824,2	MCF-7	breast:
3	chr14:55140707..55142608-chr14:55144195..55146266,2	K562	blood:
4	chr14:55140368..55141999-chr14:55142683..55145090,2	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10873085	1.00[EUR][1000 genomes]
rs17127743	0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127752	1.00[EUR][1000 genomes]
rs17127755	1.00[EUR][1000 genomes]
rs28418605	1.00[EUR][1000 genomes]
rs28532361	1.00[EUR][1000 genomes]
rs57571275	1.00[EUR][1000 genomes]
rs60333237	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv974464	chr14:55092217-55152792	Flanking Active TSS Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
2	esv2755395	chr14:55125925-55149486	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55120000-55179400	Weak transcription	Fetal Intestine Small	intestine
2	chr14:55132800-55141000	Enhancers	Right Atrium	heart
3	chr14:55132800-55141800	Enhancers	Psoas Muscle	Psoas
4	chr14:55132800-55144400	Enhancers	Left Ventricle	heart
5	chr14:55133000-55143400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr14:55133200-55142400	Weak transcription	HUVEC	blood vessel
7	chr14:55134800-55151000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:55135000-55142200	Weak transcription	Brain Hippocampus Middle	brain
9	chr14:55135600-55141000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr14:55135600-55144400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:55135600-55146400	Enhancers	Rectal Smooth Muscle	rectum
12	chr14:55135800-55142200	Enhancers	Fetal Heart	heart
13	chr14:55136000-55141000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:55136400-55141600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:55136800-55141200	Enhancers	HepG2	liver
16	chr14:55136800-55142600	Weak transcription	HMEC	breast
17	chr14:55137000-55141600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr14:55137000-55143600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr14:55137200-55142200	Weak transcription	Hela-S3	cervix
20	chr14:55137400-55141400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr14:55137800-55141200	Enhancers	Right Ventricle	heart
22	chr14:55137800-55141600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:55137800-55148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr14:55138000-55142000	Enhancers	Fetal Brain Male	brain
25	chr14:55138000-55144400	Enhancers	Fetal Muscle Leg	muscle
26	chr14:55138200-55141600	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr14:55138200-55143800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr14:55138400-55141000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr14:55138400-55141400	Enhancers	NHLF	lung
30	chr14:55138400-55141600	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr14:55138600-55141600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:55138800-55141600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:55139000-55141000	Enhancers	Brain Germinal Matrix	brain
34	chr14:55139000-55141400	Enhancers	NHDF-Ad	bronchial
35	chr14:55139000-55141600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr14:55139000-55141600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:55139200-55141000	Enhancers	Adipose Nuclei	Adipose
38	chr14:55139200-55141200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:55139200-55141200	Enhancers	Muscle Satellite Cultured Cells	--
40	chr14:55139200-55141200	Enhancers	Osteobl	bone
41	chr14:55139200-55143800	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr14:55139400-55141200	Enhancers	Brain Substantia Nigra	brain
43	chr14:55139400-55141400	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr14:55139400-55141600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:55139400-55141600	Enhancers	Fetal Brain Female	brain
46	chr14:55139400-55141600	Enhancers	HSMMtube	muscle
47	chr14:55139400-55141800	Enhancers	Brain Anterior Caudate	brain
48	chr14:55139600-55141000	Enhancers	Fetal Stomach	stomach
49	chr14:55139600-55141000	Enhancers	Rectal Mucosa Donor 31	rectum
50	chr14:55139600-55141200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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