Variant report

Variant	rs8010967
Chromosome Location	chr14:31499082-31499083
allele	C/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	GATA1	chr14:31498275-31499352	PBDE	blood:	n/a	chr14:31499163-31499172 chr14:31499162-31499172
2	ZNF384	chr14:31499004-31499324	K562	blood:	n/a	n/a

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	chr14:31494421..31497177-chr14:31497587..31499577,3	K562	blood:

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

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10129393	1.00[CHB][hapmap];0.85[ASN][1000 genomes]
rs10483354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1474800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17097598	0.85[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs179716	0.90[ASN][1000 genomes]
rs179729	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs179732	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1955562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1955563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1955566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2179932	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs2750114	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3736743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3742920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4981083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4981801	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61116407	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7142286	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7153166	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs7158412	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7158988	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73256099	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73257912	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73260377	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs74040963	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8008339	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010398	1.00[CHB][hapmap];0.90[ASN][1000 genomes]
rs8020369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322868	0.84[CHB][hapmap]
rs9635154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

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:79 , 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	chr14:31497000-31499600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr14:31497000-31499600	Weak transcription	Fetal Lung	lung
28	chr14:31497000-31500800	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr14:31497000-31500800	Weak transcription	Primary hematopoietic stem cells	blood
30	chr14:31497000-31500800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:31497000-31501600	Weak transcription	Liver	Liver
32	chr14:31497000-31502000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:31497000-31502000	Weak transcription	HSMM	muscle
34	chr14:31497000-31502200	Weak transcription	Fetal Muscle Leg	muscle
35	chr14:31497000-31502400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:31497000-31502400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr14:31497000-31502600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:31497000-31502800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr14:31497000-31505800	Weak transcription	Fetal Stomach	stomach
40	chr14:31497000-31506200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr14:31497000-31506400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:31497000-31507600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr14:31497000-31508800	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr14:31497000-31512200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr14:31497000-31512200	Weak transcription	Psoas Muscle	Psoas
46	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
47	chr14:31497200-31500000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr14:31497200-31500600	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr14:31497200-31500800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:31497200-31500800	Weak transcription	HUVEC	blood vessel

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