Variant report

Variant	rs8019014
Chromosome Location	chr14:31083259-31083260
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31083098..31087151-chr14:31087433..31093138,6	MCF-7	breast:
2	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10129681	0.90[AMR][1000 genomes]
rs10132255	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10135625	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10135741	0.90[AMR][1000 genomes]
rs10140530	0.90[AMR][1000 genomes]
rs10141104	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10141346	0.90[AMR][1000 genomes]
rs10141827	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10142125	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10143565	0.80[AMR][1000 genomes]
rs10151934	0.90[AMR][1000 genomes]
rs10152019	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10152074	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10220596	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28440085	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28495989	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28542156	0.90[AMR][1000 genomes]
rs28649144	0.90[AMR][1000 genomes]
rs28649328	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28721907	0.90[AMR][1000 genomes]
rs28798220	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs28860821	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2889991	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs56250330	0.90[AMR][1000 genomes]
rs60108812	0.90[AMR][1000 genomes]
rs6571355	0.90[AMR][1000 genomes]
rs7144286	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs7149384	0.90[AMR][1000 genomes]
rs7150097	0.90[AMR][1000 genomes]
rs7154354	0.90[AMR][1000 genomes]
rs7156916	0.80[AMR][1000 genomes]
rs7157203	0.90[AMR][1000 genomes]
rs74041103	0.90[AMR][1000 genomes]
rs74041112	0.90[AMR][1000 genomes]
rs74041117	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs74041128	0.90[AMR][1000 genomes]
rs8006594	0.90[AMR][1000 genomes]
rs8012029	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8014497	0.90[AMR][1000 genomes]
rs9806012	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs9944142	0.90[AMR][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	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
2	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:31064400-31087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:31064800-31086600	Strong transcription	Dnd41	blood
10	chr14:31064800-31087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr14:31065600-31086600	Strong transcription	HepG2	liver
12	chr14:31065800-31086800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:31065800-31087000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:31065800-31087600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr14:31069000-31090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr14:31069000-31090800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr14:31069600-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:31070400-31090600	Weak transcription	Spleen	Spleen
19	chr14:31071000-31090600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:31071000-31090600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:31071400-31090200	Weak transcription	Fetal Brain Female	brain
22	chr14:31071400-31090400	Weak transcription	Colonic Mucosa	Colon
23	chr14:31071400-31090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr14:31072200-31083600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:31072200-31090400	Weak transcription	Aorta	Aorta
26	chr14:31072200-31090400	Weak transcription	Colon Smooth Muscle	Colon
27	chr14:31072400-31090600	Weak transcription	Lung	lung
28	chr14:31072600-31083600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr14:31073800-31083400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:31073800-31090200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr14:31073800-31090200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr14:31073800-31090600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:31074400-31083400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr14:31074400-31083400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:31074400-31090200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:31074400-31090400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr14:31074400-31090400	Weak transcription	Fetal Intestine Small	intestine
38	chr14:31074400-31090400	Weak transcription	Fetal Stomach	stomach
39	chr14:31074400-31090600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:31074600-31090200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:31074800-31090200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr14:31075000-31090200	Weak transcription	Fetal Intestine Large	intestine
43	chr14:31078000-31090400	Weak transcription	Adipose Nuclei	Adipose
44	chr14:31078000-31090400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr14:31078200-31083400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr14:31078200-31085200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:31078200-31090200	Weak transcription	Psoas Muscle	Psoas
48	chr14:31078200-31090200	Weak transcription	Thymus	Thymus
49	chr14:31078200-31090400	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr14:31078200-31090400	Weak transcription	Fetal Muscle Leg	muscle

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