Variant report

Variant	rs3812944
Chromosome Location	chr15:75289965-75289966
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	chr15:75286200..75292858-chr15:75303462..75309796,11	MCF-7	breast:
3	chr15:75289676..75292332-chr15:75492915..75494669,2	MCF-7	breast:
4	chr15:75274950..75276613-chr15:75287594..75290045,3	K562	blood:
5	chr15:75287456..75290010-chr15:75314463..75316098,2	K562	blood:
6	chr15:75275080..75277543-chr15:75287594..75290421,2	K562	blood:

Variant related genes	Relation type
ENSG00000138621	Chromatin interaction
ENSG00000198794	Chromatin interaction
ENSG00000260483	Chromatin interaction
ENSG00000167173	Chromatin interaction
ENSG00000199580	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12050820	0.83[AFR][1000 genomes]
rs12148488	0.84[CHB][hapmap];0.82[LWK][hapmap];0.90[YRI][hapmap]
rs12593566	0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12900654	0.89[YRI][hapmap];0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12909515	0.86[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs12912959	0.99[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12917120	0.93[YRI][hapmap]
rs13056	0.92[YRI][hapmap]
rs1867151	0.91[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs2083730	0.88[ASW][hapmap];0.95[LWK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs2120019	0.93[YRI][hapmap]
rs2304899	1.00[ASW][hapmap];0.92[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];0.86[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap]
rs2304903	0.83[YRI][hapmap]
rs4627301	0.89[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4886651	0.88[ASW][hapmap];0.95[LWK][hapmap];0.86[MEX][hapmap];0.80[MKK][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes]
rs4886652	0.81[AFR][1000 genomes]
rs59307715	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6495139	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6495141	0.89[AFR][1000 genomes]
rs6495143	0.89[YRI][hapmap];0.89[AFR][1000 genomes]
rs7163636	0.84[CHB][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap]
rs7171200	1.00[CEU][hapmap]
rs7172565	1.00[CEU][hapmap];0.82[AMR][1000 genomes]
rs8028632	0.93[YRI][hapmap]
rs8030089	0.93[YRI][hapmap]
rs8039755	0.83[CHB][hapmap];1.00[YRI][hapmap]
rs8041468	0.85[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 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
3	esv3364772	chr15:75289575-75289985	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75287400-75290000	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr15:75288200-75290000	Enhancers	Lung	lung
3	chr15:75288200-75290200	Enhancers	Spleen	Spleen
4	chr15:75288600-75290000	Bivalent Enhancer	HUVEC	blood vessel
5	chr15:75288800-75290000	Flanking Active TSS	Fetal Brain Female	brain
6	chr15:75288800-75290000	Enhancers	Gastric	stomach
7	chr15:75288800-75290000	Weak transcription	Left Ventricle	heart
8	chr15:75289000-75290000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
9	chr15:75289000-75291000	Weak transcription	Fetal Intestine Large	intestine
10	chr15:75289000-75315800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr15:75289200-75290000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr15:75289200-75290000	Enhancers	HepG2	liver
13	chr15:75289200-75290200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:75289200-75290400	Enhancers	Brain Anterior Caudate	brain
15	chr15:75289400-75290000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr15:75289400-75290200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr15:75289400-75291000	Weak transcription	Fetal Intestine Small	intestine
18	chr15:75289400-75291400	Enhancers	Fetal Brain Male	brain
19	chr15:75289400-75299600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr15:75289400-75305000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr15:75289400-75305000	Weak transcription	Brain Substantia Nigra	brain
22	chr15:75289400-75305600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:75289400-75315400	Weak transcription	Fetal Kidney	kidney
24	chr15:75289600-75290000	Enhancers	H1 Cell Line	embryonic stem cell
25	chr15:75289600-75290000	Bivalent Enhancer	Fetal Muscle Leg	muscle
26	chr15:75289600-75290000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
27	chr15:75289600-75292200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr15:75289600-75304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr15:75289600-75305400	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr15:75289800-75290000	Enhancers	Brain Angular Gyrus	brain
31	chr15:75289800-75290000	Enhancers	Brain Cingulate Gyrus	brain
32	chr15:75289800-75290000	Enhancers	Small Intestine	intestine
33	chr15:75289800-75290200	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr15:75289800-75290200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
35	chr15:75289800-75290200	Bivalent Enhancer	Duodenum Mucosa	Duodenum
36	chr15:75289800-75290200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
37	chr15:75289800-75290400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr15:75289800-75290400	ZNF genes & repeats	Brain Germinal Matrix	brain
39	chr15:75289800-75290400	Transcr. at gene 5' and 3'	Brain Inferior Temporal Lobe	brain
40	chr15:75289800-75290600	Enhancers	Pancreas	Pancrea
41	chr15:75289800-75293800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr15:75289800-75296600	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:75289800-75298800	Weak transcription	Right Atrium	heart
44	chr15:75289800-75299200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr15:75289800-75299600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr15:75289800-75304000	Weak transcription	Brain Hippocampus Middle	brain

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