Variant report

Variant	rs679882
Chromosome Location	chr15:40759347-40759348
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	POLR2A	chr15:40759230-40759791	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:40759346-40759364	MCF-7	breast:	n/a	n/a
3	STAT3	chr15:40758938-40759347	MCF10A-Er-Src	breast:	n/a	chr15:40759177-40759188
4	STAT3	chr15:40758946-40759348	MCF10A-Er-Src	breast:	n/a	chr15:40759177-40759188
5	POLR2A	chr15:40759263-40759691	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr15:40758499-40760478	K562	blood:	n/a	n/a
7	USF1	chr15:40758987-40759373	K562	blood:	n/a	n/a
8	POLR2A	chr15:40759161-40759627	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:40731621..40739951-chr15:40753297..40765462,23	K562	blood:
2	chr15:40732257..40736129-chr15:40757677..40760458,4	MCF-7	breast:
3	chr15:40757114..40759999-chr15:40761935..40763724,3	MCF-7	breast:
4	chr15:40749521..40751919-chr15:40759316..40762355,3	MCF-7	breast:
5	chr15:40696797..40698991-chr15:40758926..40761295,2	K562	blood:
6	chr15:40732401..40734895-chr15:40758444..40760752,2	K562	blood:

Variant related genes	Relation type
ENSG00000259211	TF binding region
CHST14	TF binding region
ENSG00000169105	Chromatin interaction
ENSG00000140320	Chromatin interaction
ENSG00000128928	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12905240	1.00[JPT][hapmap]
rs16970709	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs16970758	1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17671194	1.00[CHB][hapmap]
rs17671250	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17672041	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs17733008	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2053973	1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap]
rs57812947	0.93[ASN][1000 genomes]
rs7164132	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7164321	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7166991	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7169262	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7169404	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8026523	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs8033938	1.00[JPT][hapmap]
rs8042758	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:40742400-40762200	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr15:40747400-40762600	Weak transcription	HUVEC	blood vessel
3	chr15:40749200-40762600	Weak transcription	Psoas Muscle	Psoas
4	chr15:40749200-40762800	Weak transcription	Small Intestine	intestine
5	chr15:40749400-40762200	Weak transcription	Fetal Heart	heart
6	chr15:40749400-40762400	Weak transcription	Right Atrium	heart
7	chr15:40749800-40760800	Strong transcription	Spleen	Spleen
8	chr15:40749800-40762200	Weak transcription	Fetal Brain Male	brain
9	chr15:40750000-40761400	Strong transcription	Fetal Intestine Small	intestine
10	chr15:40750200-40759400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr15:40750200-40759600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:40750200-40759800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr15:40750200-40760800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:40750200-40761000	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr15:40750400-40759600	Strong transcription	Primary B cells from peripheral blood	blood
16	chr15:40750400-40759600	Strong transcription	Gastric	stomach
17	chr15:40750400-40759600	Strong transcription	Ovary	ovary
18	chr15:40750400-40759600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr15:40750400-40759600	Strong transcription	Dnd41	blood
20	chr15:40750400-40759800	Strong transcription	Brain Germinal Matrix	brain
21	chr15:40750400-40759800	Strong transcription	Brain Inferior Temporal Lobe	brain
22	chr15:40750400-40759800	Strong transcription	Fetal Thymus	thymus
23	chr15:40750400-40760200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr15:40750400-40760600	Strong transcription	Cortex derived primary cultured neurospheres	brain
25	chr15:40750400-40761000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr15:40750400-40761000	Strong transcription	Fetal Stomach	stomach
27	chr15:40750400-40761200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:40750400-40761600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr15:40750400-40762400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr15:40750600-40759600	Strong transcription	H9 Cell Line	embryonic stem cell
31	chr15:40750600-40759600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
32	chr15:40750600-40760800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr15:40750600-40761000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
34	chr15:40750600-40761200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr15:40750800-40759400	Strong transcription	Left Ventricle	heart
36	chr15:40750800-40760000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr15:40750800-40760000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr15:40750800-40760800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:40750800-40761600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr15:40751000-40760800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr15:40751000-40760800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr15:40751000-40760800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr15:40751000-40760800	Strong transcription	Fetal Intestine Large	intestine
44	chr15:40751000-40761200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:40751200-40759400	Strong transcription	Liver	Liver
46	chr15:40751800-40759800	Strong transcription	Brain Anterior Caudate	brain
47	chr15:40751800-40759800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr15:40752800-40761000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr15:40754000-40759600	Strong transcription	Right Ventricle	heart
50	chr15:40754000-40759800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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