Variant report

Variant	rs17127743
Chromosome Location	chr14:55143426-55143427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55140368..55141999-chr14:55142683..55145090,2	K562	blood:
2	chr14:55131307..55133874-chr14:55141456..55144364,3	MCF-7	breast:
3	chr14:55140112..55141915-chr14:55141999..55144824,2	MCF-7	breast:
4	chr14:55133143..55136599-chr14:55143389..55146746,3	MCF-7	breast:
5	chr14:55140902..55144025-chr14:55156540..55160484,3	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]
rs17127740	0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17127752	1.00[YRI][hapmap];1.00[EUR][1000 genomes]
rs17127755	0.93[AFR][1000 genomes];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:89 , 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	chr14:55132800-55144400	Enhancers	Left Ventricle	heart
3	chr14:55134800-55151000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:55135600-55144400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:55135600-55146400	Enhancers	Rectal Smooth Muscle	rectum
6	chr14:55137000-55143600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:55137800-55148400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr14:55138000-55144400	Enhancers	Fetal Muscle Leg	muscle
9	chr14:55138200-55143800	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr14:55139200-55143800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr14:55139800-55143600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr14:55140000-55145800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr14:55140800-55143600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:55140800-55143800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr14:55140800-55144000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:55141000-55143600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:55141000-55143600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr14:55141000-55143600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr14:55141000-55143600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:55141000-55146200	Weak transcription	Placenta	Placenta
21	chr14:55141200-55146200	Weak transcription	Right Ventricle	heart
22	chr14:55141200-55151000	Weak transcription	Fetal Lung	lung
23	chr14:55141200-55157400	Weak transcription	HepG2	liver
24	chr14:55141400-55143600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:55141400-55145200	Enhancers	Colon Smooth Muscle	Colon
26	chr14:55141600-55144600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:55141800-55151000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr14:55142000-55143600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:55142000-55143600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:55142000-55143600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr14:55142000-55143600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr14:55142000-55143600	Enhancers	HSMMtube	muscle
33	chr14:55142000-55143800	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr14:55142000-55143800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr14:55142000-55144800	Enhancers	Fetal Brain Female	brain
36	chr14:55142000-55145200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:55142000-55146800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:55142200-55143600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:55142200-55143600	Enhancers	Brain Hippocampus Middle	brain
40	chr14:55142200-55143600	Enhancers	Stomach Smooth Muscle	stomach
41	chr14:55142200-55143600	Enhancers	NHEK	skin
42	chr14:55142200-55143800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:55142200-55143800	Enhancers	Hela-S3	cervix
44	chr14:55142200-55143800	Enhancers	HSMM	muscle
45	chr14:55142200-55144200	Enhancers	Brain Angular Gyrus	brain
46	chr14:55142200-55144400	Enhancers	NH-A	brain
47	chr14:55142200-55144800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr14:55142200-55145000	Enhancers	Brain Substantia Nigra	brain
49	chr14:55142200-55145400	Enhancers	H1 Cell Line	embryonic stem cell
50	chr14:55142200-55152200	Enhancers	Placenta Amnion	Placenta Amnion

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