Variant report

Variant	rs8031994
Chromosome Location	chr15:40685150-40685151
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:40674079..40683588-chr15:40684131..40692224,17	K562	blood:
2	chr15:40677201..40680509-chr15:40684256..40687941,4	K562	blood:
3	chr15:40682315..40685553-chr15:40696450..40699651,3	K562	blood:

Variant related genes	Relation type
ENSG00000128928	Chromatin interaction
ENSG00000128944	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11541641	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11541643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12185076	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970653	1.00[CHB][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16970660	1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2229312	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28379196	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6492944	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs68169695	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175153	0.88[YRI][hapmap]
rs7176592	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177949	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733427	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs72733428	0.99[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72733434	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733437	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733442	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733444	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72733445	0.90[EUR][1000 genomes]
rs72733449	0.90[EUR][1000 genomes]
rs72733450	0.90[EUR][1000 genomes]
rs72733453	0.90[EUR][1000 genomes]
rs73383135	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031814	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8032114	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036457	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs875767	1.00[CHB][hapmap];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34145	chr15:40549617-40889824	Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv510660	chr15:40552906-40721883	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8031994	IVD	Cis_1M	lymphoblastoid	RTeQTL
rs8031994	C15orf23	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40676000-40689800	Weak transcription	Right Atrium	heart
2	chr15:40676000-40697400	Weak transcription	Small Intestine	intestine
3	chr15:40676200-40685200	Weak transcription	Colon Smooth Muscle	Colon
4	chr15:40676200-40687200	Weak transcription	Colonic Mucosa	Colon
5	chr15:40676200-40690400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:40676200-40697200	Weak transcription	Stomach Mucosa	stomach
7	chr15:40676400-40687200	Weak transcription	Right Ventricle	heart
8	chr15:40676800-40687200	Strong transcription	H9 Cell Line	embryonic stem cell
9	chr15:40676800-40688000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:40676800-40688400	Strong transcription	Fetal Thymus	thymus
11	chr15:40677000-40686800	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr15:40677000-40688600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:40677200-40687400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr15:40677200-40687600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:40677200-40687600	Strong transcription	Fetal Stomach	stomach
16	chr15:40677400-40687000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr15:40677600-40686600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:40677600-40687000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr15:40677600-40687600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr15:40677800-40686400	Strong transcription	Hela-S3	cervix
21	chr15:40677800-40688800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr15:40678000-40687400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr15:40678200-40688400	Strong transcription	Fetal Muscle Leg	muscle
24	chr15:40678400-40687600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr15:40678600-40686800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr15:40678600-40687600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr15:40678600-40687600	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr15:40678600-40688000	Strong transcription	Thymus	Thymus
29	chr15:40678800-40686200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr15:40678800-40686200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr15:40678800-40686400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr15:40678800-40688000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr15:40679200-40688400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:40679400-40686600	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr15:40679400-40697400	Weak transcription	Brain Substantia Nigra	brain
36	chr15:40679800-40685600	Weak transcription	Fetal Brain Male	brain
37	chr15:40679800-40689800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr15:40679800-40690200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr15:40679800-40690200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr15:40679800-40690400	Weak transcription	Pancreas	Pancrea
41	chr15:40679800-40697200	Weak transcription	Ovary	ovary
42	chr15:40679800-40697600	Weak transcription	Esophagus	oesophagus
43	chr15:40680000-40685800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr15:40680000-40689800	Weak transcription	Fetal Heart	heart
45	chr15:40680200-40687600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr15:40680800-40686200	Strong transcription	A549	lung
47	chr15:40680800-40686400	Strong transcription	NH-A	brain
48	chr15:40680800-40687000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr15:40681000-40686200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr15:40681000-40686600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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