Variant report

Variant	rs757370
Chromosome Location	chr14:69022034-69022035
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:69010762..69012583-chr14:69020438..69023361,2	MCF-7	breast:
2	chr14:68773930..68776459-chr14:69021069..69023168,2	MCF-7	breast:
3	chr14:68923760..68926395-chr14:69020012..69022778,2	MCF-7	breast:
4	chr14:69018839..69025167-chr14:69255576..69261923,8	MCF-7	breast:
5	chr14:69021201..69023551-chr14:69053894..69056000,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000182185	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1476586	0.91[CHB][hapmap];0.87[AMR][1000 genomes]
rs1859302	0.92[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2040782	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2079211	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2158358	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2244814	1.00[CHB][hapmap];0.92[JPT][hapmap];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2247048	0.92[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs2525521	0.92[CHB][hapmap];0.87[AMR][1000 genomes]
rs2525522	0.86[AMR][1000 genomes]
rs2525523	0.87[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2525524	0.84[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2525525	0.91[CHB][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2525526	0.92[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2525527	0.90[CHB][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2525530	0.83[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs2679	0.85[JPT][hapmap]
rs2842325	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2842328	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2842329	1.00[CEU][hapmap];0.90[CHB][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2842331	0.91[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs2842338	0.83[AMR][1000 genomes]
rs916962	0.91[CHB][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs929285	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv516239	chr14:69010690-69025870	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	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
5	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69009000-69023600	Enhancers	Fetal Muscle Leg	muscle
2	chr14:69013400-69022600	Enhancers	HUVEC	blood vessel
3	chr14:69013600-69022600	Enhancers	Adipose Nuclei	Adipose
4	chr14:69014400-69022600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:69014400-69022800	Enhancers	Rectal Smooth Muscle	rectum
6	chr14:69015800-69022600	Enhancers	NHDF-Ad	bronchial
7	chr14:69015800-69022800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr14:69015800-69023000	Weak transcription	Aorta	Aorta
9	chr14:69016000-69022800	Enhancers	NHEK	skin
10	chr14:69016000-69023000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr14:69017000-69023000	Weak transcription	Spleen	Spleen
12	chr14:69017200-69022600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr14:69017200-69022800	Enhancers	Colon Smooth Muscle	Colon
14	chr14:69017400-69030400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:69017800-69028200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:69018000-69022400	Enhancers	Fetal Thymus	thymus
17	chr14:69018200-69022600	Enhancers	HSMM	muscle
18	chr14:69018200-69022800	Enhancers	Muscle Satellite Cultured Cells	--
19	chr14:69018200-69023600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr14:69018200-69029600	Weak transcription	Fetal Intestine Small	intestine
21	chr14:69018600-69024600	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr14:69018600-69024800	Weak transcription	Fetal Stomach	stomach
23	chr14:69018600-69026400	Weak transcription	Ovary	ovary
24	chr14:69018800-69024400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr14:69019000-69028200	Weak transcription	Fetal Lung	lung
26	chr14:69019200-69028200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:69019400-69022400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:69019400-69022600	Enhancers	Placenta Amnion	Placenta Amnion
29	chr14:69019400-69028400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:69019800-69022400	Enhancers	Placenta	Placenta
31	chr14:69019800-69022400	Enhancers	Left Ventricle	heart
32	chr14:69019800-69029800	Weak transcription	Primary neutrophils fromperipheralblood	blood
33	chr14:69020000-69022600	Enhancers	Psoas Muscle	Psoas
34	chr14:69020000-69023000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr14:69020200-69022200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr14:69020200-69022200	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr14:69020400-69022200	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr14:69020400-69028400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr14:69020400-69030000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr14:69020800-69022600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr14:69020800-69022600	Enhancers	Colonic Mucosa	Colon
42	chr14:69020800-69022600	Enhancers	Right Atrium	heart
43	chr14:69020800-69022800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr14:69020800-69023200	Enhancers	Esophagus	oesophagus
45	chr14:69020800-69023200	Enhancers	Lung	lung
46	chr14:69021000-69022200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr14:69021000-69022400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr14:69021000-69022400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:69021000-69022400	Enhancers	Pancreas	Pancrea
50	chr14:69021000-69022400	Enhancers	Osteobl	bone

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