Variant report

Variant	rs8008526
Chromosome Location	chr14:31500537-31500538
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr14:31500472-31501470	HCT-116	colon:	n/a	n/a
2	ATF1	chr14:31500491-31501137	K562	blood:	n/a	n/a
3	JUN	chr14:31500503-31501706	K562	blood:	n/a	chr14:31500960-31500972 chr14:31500961-31500971 chr14:31500963-31500970 chr14:31500962-31500970 chr14:31500962-31500970 chr14:31500894-31500907
4	JUND	chr14:31500532-31501204	K562	blood:	n/a	chr14:31500960-31500972 chr14:31500961-31500971 chr14:31500960-31500971 chr14:31500963-31500970 chr14:31500962-31500970 chr14:31500962-31500970

No.	Distal block	Cell Line	Cell type
1	chr14:31499033..31500685-chr14:31501316..31504225,4	MCF-7	breast:
2	chr14:31498429..31503635-chr14:31504922..31508361,9	K562	blood:
3	chr14:31492981..31498080-chr14:31499700..31503641,8	MCF-7	breast:
4	chr14:31500047..31501717-chr14:31510659..31513368,2	K562	blood:

Variant related genes	Relation type
STRN3	TF binding region
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10459471	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10483355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10483356	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10483359	0.91[CEU][hapmap];0.90[CHB][hapmap];0.83[AMR][1000 genomes]
rs11623403	0.81[JPT][hapmap]
rs11624437	0.89[CHB][hapmap]
rs11625390	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11625978	0.83[YRI][hapmap]
rs11627379	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12892054	0.89[CHB][hapmap]
rs12897532	1.00[CHB][hapmap]
rs17097531	0.91[CEU][hapmap];0.89[AMR][1000 genomes]
rs17097608	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17097614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17097617	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs17097688	0.89[CHB][hapmap]
rs1977130	0.83[YRI][hapmap];0.83[AMR][1000 genomes]
rs2064823	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2281563	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2378815	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3784158	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55708493	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55843943	0.83[AMR][1000 genomes]
rs56136496	0.83[AMR][1000 genomes]
rs60862458	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60990438	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61129484	0.94[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6571374	0.83[AMR][1000 genomes]
rs7140551	0.83[AMR][1000 genomes]
rs7150316	0.81[JPT][hapmap];0.82[YRI][hapmap]
rs72668381	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72670303	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8008326	0.80[YRI][hapmap]
rs8010129	0.90[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS 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 miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31496200-31500800	Weak transcription	Small Intestine	intestine
2	chr14:31496600-31500800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:31496600-31500800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr14:31496600-31500800	Weak transcription	Stomach Mucosa	stomach
5	chr14:31496600-31505800	Weak transcription	Primary T cells from cord blood	blood
6	chr14:31496600-31507800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr14:31496600-31509800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr14:31496600-31515800	Weak transcription	Thymus	Thymus
9	chr14:31496800-31500800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:31496800-31500800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr14:31496800-31500800	Weak transcription	Gastric	stomach
12	chr14:31496800-31500800	Weak transcription	NH-A	brain
13	chr14:31496800-31501800	Weak transcription	Pancreas	Pancrea
14	chr14:31496800-31502400	Weak transcription	Ovary	ovary
15	chr14:31496800-31505800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr14:31496800-31507000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:31496800-31507600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr14:31496800-31508400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr14:31496800-31508600	Weak transcription	Lung	lung
20	chr14:31496800-31511200	Weak transcription	Brain Anterior Caudate	brain
21	chr14:31496800-31517600	Weak transcription	Left Ventricle	heart
22	chr14:31496800-31517800	Weak transcription	Brain Hippocampus Middle	brain
23	chr14:31496800-31517800	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr14:31496800-31522400	Weak transcription	Right Atrium	heart
25	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr14:31497000-31500800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr14:31497000-31500800	Weak transcription	Primary hematopoietic stem cells	blood
28	chr14:31497000-31500800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr14:31497000-31501600	Weak transcription	Liver	Liver
30	chr14:31497000-31502000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:31497000-31502000	Weak transcription	HSMM	muscle
32	chr14:31497000-31502200	Weak transcription	Fetal Muscle Leg	muscle
33	chr14:31497000-31502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr14:31497000-31502400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:31497000-31502600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr14:31497000-31502800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:31497000-31505800	Weak transcription	Fetal Stomach	stomach
38	chr14:31497000-31506200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr14:31497000-31506400	Weak transcription	Primary T helper cells fromperipheralblood	blood
40	chr14:31497000-31507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr14:31497000-31508800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr14:31497000-31512200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr14:31497000-31512200	Weak transcription	Psoas Muscle	Psoas
44	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
45	chr14:31497200-31500600	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr14:31497200-31500800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr14:31497200-31500800	Weak transcription	HUVEC	blood vessel
48	chr14:31497200-31501000	Weak transcription	Primary B cells from cord blood	blood
49	chr14:31497200-31502000	Enhancers	HepG2	liver
50	chr14:31497200-31502200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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