Variant report

Variant	rs8030089
Chromosome Location	chr15:75290377-75290378
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:75289096..75291038-chr15:75311135..75313518,2	K562	blood:
2	chr15:75286777..75288532-chr15:75290175..75292211,2	K562	blood:
3	chr15:75286200..75292858-chr15:75303462..75309796,11	MCF-7	breast:
4	chr15:75289676..75292332-chr15:75492915..75494669,2	MCF-7	breast:
5	chr15:75275080..75277543-chr15:75287594..75290421,2	K562	blood:

Variant related genes	Relation type
ENSG00000199580	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000167173	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12148488	0.81[YRI][hapmap]
rs12185077	0.84[EUR][1000 genomes]
rs12185078	0.81[AMR][1000 genomes]
rs12185102	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12324912	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12591119	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12593566	0.81[YRI][hapmap]
rs12900654	0.81[YRI][hapmap]
rs12910644	0.85[CEU][hapmap];0.95[JPT][hapmap];0.83[EUR][1000 genomes]
rs12911421	0.89[EUR][1000 genomes]
rs12917120	1.00[YRI][hapmap]
rs13056	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1867146	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1867150	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2083730	0.82[YRI][hapmap]
rs2120019	0.91[CEU][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2120020	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2289582	1.00[CEU][hapmap];0.87[YRI][hapmap];0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2304899	0.93[YRI][hapmap]
rs2304903	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2415254	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2415255	0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs34237279	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34713999	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34835684	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35577967	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35736167	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35911108	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3812944	0.93[YRI][hapmap]
rs3850093	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886651	0.82[YRI][hapmap]
rs5020842	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58068887	0.80[AFR][1000 genomes]
rs59094290	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60425110	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6495135	0.82[YRI][hapmap]
rs6495138	0.84[YRI][hapmap]
rs6495143	0.81[YRI][hapmap]
rs67324798	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs67544533	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7163636	0.93[YRI][hapmap]
rs7167415	0.84[YRI][hapmap]
rs7175720	0.91[CEU][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7342591	0.82[YRI][hapmap]
rs7342601	0.82[YRI][hapmap]
rs8028632	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8031545	0.84[YRI][hapmap]
rs8033837	0.92[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8033925	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8036573	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8039755	0.90[YRI][hapmap]
rs8042409	0.92[CEU][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8042558	0.86[JPT][hapmap]
rs9672995	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9673012	0.83[YRI][hapmap]

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	nsv569993	chr15:75242155-75483752	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
2	nsv542435	chr15:75271788-75321117	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75289000-75291000	Weak transcription	Fetal Intestine Large	intestine
2	chr15:75289000-75315800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:75289200-75290400	Enhancers	Brain Anterior Caudate	brain
4	chr15:75289400-75291000	Weak transcription	Fetal Intestine Small	intestine
5	chr15:75289400-75291400	Enhancers	Fetal Brain Male	brain
6	chr15:75289400-75299600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr15:75289400-75305000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:75289400-75305000	Weak transcription	Brain Substantia Nigra	brain
9	chr15:75289400-75305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:75289400-75315400	Weak transcription	Fetal Kidney	kidney
11	chr15:75289600-75292200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr15:75289600-75304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr15:75289600-75305400	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:75289800-75290400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr15:75289800-75290400	ZNF genes & repeats	Brain Germinal Matrix	brain
16	chr15:75289800-75290400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
17	chr15:75289800-75290600	Enhancers	Pancreas	Pancrea
18	chr15:75289800-75293800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:75289800-75296600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr15:75289800-75298800	Weak transcription	Right Atrium	heart
21	chr15:75289800-75299200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr15:75289800-75299600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr15:75289800-75304000	Weak transcription	Brain Hippocampus Middle	brain
24	chr15:75290000-75303600	Weak transcription	Brain Angular Gyrus	brain
25	chr15:75290000-75303800	Weak transcription	Brain Cingulate Gyrus	brain
26	chr15:75290000-75304400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr15:75290000-75304400	Weak transcription	HepG2	liver
28	chr15:75290000-75309400	Weak transcription	Gastric	stomach
29	chr15:75290000-75316000	Weak transcription	Small Intestine	intestine
30	chr15:75290200-75290400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr15:75290200-75290400	Enhancers	Duodenum Mucosa	Duodenum
32	chr15:75290200-75291800	Genic enhancers	Fetal Brain Female	brain
33	chr15:75290200-75299200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr15:75290200-75302400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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