Variant report

Variant	rs8014497
Chromosome Location	chr14:31091831-31091832
allele	C/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31090296..31092019-chr14:31343870..31346650,2	K562	blood:
2	chr14:31090018..31093014-chr14:31887951..31890191,2	MCF-7	breast:
3	chr14:31090029..31096005-chr14:31342159..31346650,8	K562	blood:
4	chr14:31090421..31092379-chr14:31107832..31110754,2	MCF-7	breast:
5	chr12:56367832..56368367-chr14:31091388..31092220,2	Hela-S3	cervix:
6	chr14:31091067..31091965-chr17:34900623..34901463,3	Hela-S3	cervix:
7	chr14:31027121..31031753-chr14:31090278..31094067,6	K562	blood:
8	chr14:31060440..31063351-chr14:31089762..31092777,3	MCF-7	breast:
9	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:
10	chr14:31091484..31091986-chr6:27114657..27115436,2	Hela-S3	cervix:
11	chr14:31091399..31091961-chr15:67834767..67835630,2	Hela-S3	cervix:
12	chr14:31078979..31080673-chr14:31091206..31092941,2	MCF-7	breast:
13	chr14:31067708..31069634-chr14:31090291..31092583,3	MCF-7	breast:
14	chr14:31025231..31028884-chr14:31089510..31093231,4	MCF-7	breast:
15	chr14:31027330..31031100-chr14:31087785..31093139,9	MCF-7	breast:
16	chr1:153935357..153936246-chr14:31091282..31091843,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000250365	Chromatin interaction
ENSG00000100473	Chromatin interaction
ENSG00000092140	Chromatin interaction
ENSG00000270964	Chromatin interaction
ENSG00000005955	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000129493	Chromatin interaction
ENSG00000265565	Chromatin interaction
ENSG00000184825	Chromatin interaction
ENSG00000137764	Chromatin interaction
ENSG00000092108	Chromatin interaction
ENSG00000111540	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10129681	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10130571	0.81[AMR][1000 genomes]
rs10132255	1.00[AMR][1000 genomes]
rs10132507	0.81[AMR][1000 genomes]
rs10135625	1.00[AMR][1000 genomes]
rs10135741	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10140530	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141104	1.00[AMR][1000 genomes]
rs10141346	1.00[AMR][1000 genomes]
rs10141827	1.00[AMR][1000 genomes]
rs10142125	1.00[AMR][1000 genomes]
rs10142747	0.81[AMR][1000 genomes]
rs10143105	0.81[AMR][1000 genomes]
rs10143565	0.90[AMR][1000 genomes]
rs10148278	0.81[AMR][1000 genomes]
rs10148782	0.81[AMR][1000 genomes]
rs10151934	1.00[AMR][1000 genomes]
rs10152019	1.00[AMR][1000 genomes]
rs10152074	1.00[AMR][1000 genomes]
rs10220596	1.00[AMR][1000 genomes]
rs2157700	0.81[AMR][1000 genomes]
rs28440085	1.00[AMR][1000 genomes]
rs28495989	1.00[AMR][1000 genomes]
rs28542156	1.00[AMR][1000 genomes]
rs28649144	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649328	1.00[AMR][1000 genomes]
rs28721907	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28798220	1.00[AMR][1000 genomes]
rs28860821	1.00[AMR][1000 genomes]
rs2889991	1.00[AMR][1000 genomes]
rs56250330	1.00[AMR][1000 genomes]
rs60108812	1.00[AMR][1000 genomes]
rs6571355	0.93[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7140200	0.89[AMR][1000 genomes]
rs7144286	1.00[AMR][1000 genomes]
rs7149384	0.86[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7150097	1.00[AMR][1000 genomes]
rs7154354	1.00[AMR][1000 genomes]
rs7156057	0.81[AMR][1000 genomes]
rs7156916	0.85[YRI][hapmap];0.90[AMR][1000 genomes]
rs7157203	1.00[AMR][1000 genomes]
rs7159972	0.81[AMR][1000 genomes]
rs7359107	0.81[AMR][1000 genomes]
rs74041103	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041112	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041117	1.00[AMR][1000 genomes]
rs74041128	1.00[AMR][1000 genomes]
rs74041241	0.81[AMR][1000 genomes]
rs8006594	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8010048	0.81[AMR][1000 genomes]
rs8012029	1.00[AMR][1000 genomes]
rs8019014	0.90[AMR][1000 genomes]
rs8022976	0.81[AMR][1000 genomes]
rs9806012	1.00[AMR][1000 genomes]
rs9944142	0.83[AFR][1000 genomes];1.00[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31090200-31092400	Active TSS	Duodenum Mucosa	Duodenum
2	chr14:31090200-31092400	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr14:31090200-31092400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr14:31090200-31092400	Active TSS	Placenta	Placenta
5	chr14:31090200-31092400	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr14:31090200-31092600	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr14:31090200-31092800	Active TSS	Fetal Intestine Large	intestine
8	chr14:31090200-31092800	Active TSS	Psoas Muscle	Psoas
9	chr14:31090200-31093000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr14:31090200-31093200	Active TSS	Fetal Lung	lung
11	chr14:31090200-31093400	Active TSS	Fetal Brain Female	brain
12	chr14:31090200-31093400	Active TSS	Right Atrium	heart
13	chr14:31090200-31093600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:31090400-31092000	Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr14:31090400-31092200	Active TSS	Brain Substantia Nigra	brain
16	chr14:31090400-31092200	Active TSS	Left Ventricle	heart
17	chr14:31090400-31092200	Active TSS	Ovary	ovary
18	chr14:31090400-31092400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:31090400-31092400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:31090400-31092400	Active TSS	Colonic Mucosa	Colon
21	chr14:31090400-31092600	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr14:31090400-31092600	Active TSS	Brain Angular Gyrus	brain
23	chr14:31090400-31092600	Active TSS	Brain Inferior Temporal Lobe	brain
24	chr14:31090400-31092600	Active TSS	Right Ventricle	heart
25	chr14:31090400-31092800	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr14:31090400-31092800	Flanking Active TSS	Primary T cells from cord blood	blood
27	chr14:31090400-31092800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr14:31090400-31092800	Active TSS	Fetal Intestine Small	intestine
29	chr14:31090400-31092800	Active TSS	Fetal Stomach	stomach
30	chr14:31090400-31092800	Active TSS	Rectal Smooth Muscle	rectum
31	chr14:31090400-31093000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr14:31090400-31093000	Active TSS	A549	lung
33	chr14:31090400-31093200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:31090400-31093200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr14:31090400-31093200	Active TSS	Colon Smooth Muscle	Colon
36	chr14:31090400-31093200	Active TSS	Fetal Kidney	kidney
37	chr14:31090400-31093200	Active TSS	K562	blood
38	chr14:31090400-31093400	Active TSS	Aorta	Aorta
39	chr14:31090600-31092000	Active TSS	Brain Anterior Caudate	brain
40	chr14:31090600-31092000	ZNF genes & repeats	Fetal Brain Male	brain
41	chr14:31090600-31092000	Active TSS	Spleen	Spleen
42	chr14:31090600-31092200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr14:31090600-31092200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:31090600-31092200	Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr14:31090600-31092200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr14:31090600-31092200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr14:31090600-31092200	Active TSS	Gastric	stomach
48	chr14:31090600-31092200	Active TSS	Lung	lung
49	chr14:31090600-31092200	Active TSS	Placenta Amnion	Placenta Amnion
50	chr14:31090600-31092200	Active TSS	Sigmoid Colon	Sigmoid Colon

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