Variant report

Variant	rs8006036
Chromosome Location	chr14:81676959-81676960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81671482..81674302-chr14:81674927..81677251,2	MCF-7	breast:
2	chr14:81668782..81673405-chr14:81676338..81680193,5	K562	blood:
3	chr14:81649550..81651536-chr14:81676600..81679545,2	K562	blood:

Variant related genes	Relation type
ENSG00000221303	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10149681	0.95[ASN][1000 genomes]
rs12147118	0.95[ASN][1000 genomes]
rs12586249	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12590764	0.92[ASN][1000 genomes]
rs1864169	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1951616	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1957546	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2099108	0.95[ASN][1000 genomes]
rs2288498	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28890880	0.87[ASN][1000 genomes]
rs4363794	0.95[ASN][1000 genomes]
rs4640110	0.81[EUR][1000 genomes]
rs4899786	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7142641	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7144005	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7148100	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7149294	0.80[AMR][1000 genomes]
rs7149672	0.95[ASN][1000 genomes]
rs7160599	0.80[AMR][1000 genomes]
rs8004096	0.90[ASN][1000 genomes]
rs8007841	0.93[ASN][1000 genomes]
rs8009888	0.82[AMR][1000 genomes]
rs8010219	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8011097	0.92[ASN][1000 genomes]
rs8014406	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8016352	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8016982	0.91[ASN][1000 genomes]
rs8021125	0.92[ASN][1000 genomes]
rs8021385	0.92[ASN][1000 genomes]
rs9806020	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9806027	0.93[ASN][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	nsv832841	chr14:81588322-81743921	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	86 gene(s)	inside rSNPs	diseases
2	nsv902117	chr14:81643800-81682392	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81637000-81683800	Weak transcription	Small Intestine	intestine
2	chr14:81643800-81683200	Strong transcription	HUES64 Cell Line	embryonic stem cell
3	chr14:81644200-81683600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr14:81644600-81685400	Weak transcription	Right Ventricle	heart
5	chr14:81649200-81677800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr14:81651000-81685000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:81652600-81685400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:81654200-81683200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr14:81656600-81682800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr14:81656600-81683000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr14:81656600-81683400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr14:81660800-81685400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:81661000-81685400	Weak transcription	Aorta	Aorta
14	chr14:81662600-81684600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr14:81662800-81685400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:81663000-81683200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr14:81663000-81683800	Weak transcription	Fetal Brain Male	brain
18	chr14:81666400-81683400	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr14:81666800-81678600	Strong transcription	Dnd41	blood
20	chr14:81666800-81685000	Weak transcription	Stomach Mucosa	stomach
21	chr14:81667000-81682800	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr14:81667000-81682800	Strong transcription	Fetal Thymus	thymus
23	chr14:81667400-81678000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr14:81667400-81683200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:81667600-81678600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:81667600-81684000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr14:81667800-81678800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr14:81667800-81682000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr14:81669200-81677400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:81669600-81684600	Weak transcription	HSMMtube	muscle
31	chr14:81669800-81677400	Weak transcription	A549	lung
32	chr14:81670400-81679200	Weak transcription	NHDF-Ad	bronchial
33	chr14:81670600-81685200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr14:81671200-81683400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:81671400-81679200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:81671600-81678200	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:81672000-81677000	Strong transcription	Fetal Muscle Leg	muscle
38	chr14:81672600-81679200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr14:81672600-81682400	Strong transcription	Fetal Intestine Large	intestine
40	chr14:81672800-81679000	Weak transcription	NH-A	brain
41	chr14:81672800-81684600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:81673000-81678400	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr14:81673200-81677600	Weak transcription	Fetal Heart	heart
44	chr14:81673600-81683600	ZNF genes & repeats	GM12878-XiMat	blood
45	chr14:81674000-81681600	Weak transcription	Fetal Brain Female	brain
46	chr14:81674000-81684000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:81674000-81685000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr14:81674000-81685400	Weak transcription	Colonic Mucosa	Colon
49	chr14:81674200-81678400	Weak transcription	Colon Smooth Muscle	Colon
50	chr14:81674200-81681600	Weak transcription	H9 Cell Line	embryonic stem cell

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