Variant report

Variant	rs8031243
Chromosome Location	chr15:41681139-41681140
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs34979001	1.00[ASW][hapmap];0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs36124939	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs55643943	0.84[AFR][1000 genomes]
rs55693915	1.00[AMR][1000 genomes]
rs56140669	0.84[AFR][1000 genomes]
rs56660190	1.00[AMR][1000 genomes]
rs58964563	1.00[AMR][1000 genomes]
rs59836577	1.00[AMR][1000 genomes]
rs7162242	0.82[AFR][1000 genomes]
rs7166617	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs7181505	0.80[AFR][1000 genomes]
rs74012258	0.84[AFR][1000 genomes]
rs74012285	0.80[AFR][1000 genomes]
rs74012287	0.95[AFR][1000 genomes]
rs74012295	0.84[AFR][1000 genomes]
rs74012297	0.84[AFR][1000 genomes]
rs8037253	0.87[YRI][hapmap]
rs8038086	0.84[AFR][1000 genomes]
rs8038185	0.95[LWK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs8039556	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044438	chr15:41560160-41745480	Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1038923	chr15:41585028-41754890	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1045142	chr15:41585044-41738314	Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv1039283	chr15:41620499-41745480	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
5	nsv933757	chr15:41641236-41773058	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	27 gene(s)	inside rSNPs	diseases
6	esv3443258	chr15:41644871-41681515	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	esv3409890	chr15:41644895-41681538	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41625800-41694200	Weak transcription	Small Intestine	intestine
2	chr15:41626800-41686400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr15:41660200-41688400	Weak transcription	Esophagus	oesophagus
4	chr15:41660200-41693800	Weak transcription	Right Ventricle	heart
5	chr15:41661800-41693200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr15:41665200-41688400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr15:41665800-41683400	Weak transcription	Left Ventricle	heart
8	chr15:41666400-41686400	Weak transcription	Brain Anterior Caudate	brain
9	chr15:41669000-41687000	Weak transcription	Aorta	Aorta
10	chr15:41669600-41684400	Weak transcription	Brain Substantia Nigra	brain
11	chr15:41670600-41686400	Weak transcription	NH-A	brain
12	chr15:41670800-41686400	Weak transcription	Gastric	stomach
13	chr15:41672000-41693600	Weak transcription	Colonic Mucosa	Colon
14	chr15:41673200-41688400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:41673400-41687000	Weak transcription	K562	blood
16	chr15:41673400-41687200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:41673400-41693800	Weak transcription	HMEC	breast
18	chr15:41673600-41686600	Weak transcription	GM12878-XiMat	blood
19	chr15:41673600-41687000	Weak transcription	HUVEC	blood vessel
20	chr15:41673600-41687200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr15:41673600-41693800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr15:41673600-41693800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:41673800-41685000	Weak transcription	HSMM	muscle
24	chr15:41673800-41686200	Weak transcription	Fetal Lung	lung
25	chr15:41673800-41686400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:41673800-41686400	Weak transcription	NHEK	skin
27	chr15:41673800-41686600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr15:41673800-41686600	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr15:41673800-41687000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr15:41673800-41687000	Weak transcription	A549	lung
31	chr15:41673800-41687000	Weak transcription	Dnd41	blood
32	chr15:41673800-41688400	Weak transcription	Hela-S3	cervix
33	chr15:41673800-41693600	Weak transcription	Primary hematopoietic stem cells	blood
34	chr15:41674000-41685000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr15:41674000-41686400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr15:41674000-41693800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr15:41674000-41693800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr15:41674200-41686400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:41675400-41686400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr15:41676400-41682400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr15:41676400-41682800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr15:41676400-41689400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:41676400-41689400	Strong transcription	Fetal Muscle Trunk	muscle
44	chr15:41676400-41689400	Strong transcription	Fetal Thymus	thymus
45	chr15:41676400-41692200	Strong transcription	Fetal Stomach	stomach
46	chr15:41676600-41686800	Weak transcription	Colon Smooth Muscle	Colon
47	chr15:41676800-41686600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr15:41677000-41686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:41677000-41693400	Weak transcription	HepG2	liver
50	chr15:41677200-41693400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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