Variant report

Variant	rs2158357
Chromosome Location	chr14:69029203-69029204
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68938535..68940820-chr14:69027924..69029987,2	MCF-7	breast:
2	chr14:68995172..68997333-chr14:69028182..69030145,2	MCF-7	breast:
3	chr14:68998490..69000612-chr14:69028274..69029938,2	MCF-7	breast:
4	chr14:69023246..69027101-chr14:69028219..69030991,3	MCF-7	breast:
5	chr14:69028863..69039900-chr14:69256962..69265663,39	MCF-7	breast:
6	chr14:69027264..69032673-chr14:69034374..69038789,10	MCF-7	breast:
7	chr14:69027748..69038857-chr14:69257974..69264472,24	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EXD2-4	chr14:69029046-69030658	NONHSAT037487

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10483812	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483813	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11621276	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624097	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624164	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624333	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628293	0.95[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11844632	0.95[ASN][1000 genomes]
rs12889251	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17105780	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs17105847	1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs17755925	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756000	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17756147	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17828907	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17828955	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34636650	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34882439	0.95[ASN][1000 genomes]
rs36028293	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423314	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71423316	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423317	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423318	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs739874	0.82[AMR][1000 genomes]
rs999737	0.95[CEU][hapmap];0.91[AMR][1000 genomes];0.84[EUR][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	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1795754	chr14:69017623-69079110	Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	esv1832715	chr14:69017623-69079110	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69017400-69030400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:69018200-69029600	Weak transcription	Fetal Intestine Small	intestine
3	chr14:69019800-69029800	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:69020400-69030000	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr14:69021000-69036200	Weak transcription	Brain Germinal Matrix	brain
6	chr14:69021400-69030000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:69022200-69031400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:69022400-69029800	Weak transcription	NH-A	brain
9	chr14:69022600-69029400	Weak transcription	HMEC	breast
10	chr14:69022600-69032600	Weak transcription	NHDF-Ad	bronchial
11	chr14:69023200-69029400	Weak transcription	Aorta	Aorta
12	chr14:69024200-69029600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:69025200-69031200	Weak transcription	HUVEC	blood vessel
14	chr14:69025400-69029800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:69026400-69033600	Enhancers	Ovary	ovary
16	chr14:69027200-69033400	Enhancers	Liver	Liver
17	chr14:69027400-69029800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr14:69027400-69029800	Enhancers	HepG2	liver
19	chr14:69027400-69030000	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr14:69027600-69030200	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr14:69027600-69030400	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr14:69027600-69032000	Enhancers	Colon Smooth Muscle	Colon
23	chr14:69027600-69032600	Enhancers	Fetal Stomach	stomach
24	chr14:69027600-69032800	Enhancers	Fetal Muscle Trunk	muscle
25	chr14:69027600-69033000	Enhancers	Primary T cells from cord blood	blood
26	chr14:69027600-69033400	Enhancers	Placenta	Placenta
27	chr14:69027600-69033600	Enhancers	Fetal Muscle Leg	muscle
28	chr14:69027800-69033400	Enhancers	Lung	lung
29	chr14:69027800-69033400	Enhancers	Pancreas	Pancrea
30	chr14:69027800-69033600	Enhancers	Fetal Thymus	thymus
31	chr14:69028000-69029600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr14:69028000-69029600	Enhancers	Stomach Smooth Muscle	stomach
33	chr14:69028000-69030800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:69028000-69032600	Enhancers	Primary hematopoietic stem cells	blood
35	chr14:69028000-69032800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr14:69028000-69033600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr14:69028200-69029600	Enhancers	HSMMtube	muscle
38	chr14:69028200-69030000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr14:69028200-69030800	Enhancers	Rectal Smooth Muscle	rectum
40	chr14:69028200-69031200	Enhancers	Duodenum Mucosa	Duodenum
41	chr14:69028200-69032400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:69028200-69032400	Enhancers	Duodenum Smooth Muscle	Duodenum
43	chr14:69028200-69032600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:69028200-69033400	Enhancers	Fetal Lung	lung
45	chr14:69028200-69033400	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr14:69028200-69033600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:69028200-69033600	Enhancers	Adipose Nuclei	Adipose
48	chr14:69028400-69029400	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr14:69028400-69029400	Weak transcription	Right Atrium	heart
50	chr14:69028400-69029800	Enhancers	Right Ventricle	heart

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