Variant report

Variant	rs9806735
Chromosome Location	chr15:43804347-43804348
allele	A/C
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	CTCF	chr15:43804200-43804350	AG04450	lung:	n/a	n/a
2	CTCF	chr15:43804240-43804390	GM12872	blood:	n/a	n/a
3	MXI1	chr15:43802413-43804417	IMR90	lung:	n/a	n/a
4	RAD21	chr15:43801795-43804382	SK-N-SH	brain:	n/a	chr15:43803950-43803964 chr15:43803946-43803958
5	REST	chr15:43802087-43804392	H1-neurons	neurons:	n/a	n/a
6	MXI1	chr15:43800817-43804506	SK-N-SH	brain:	n/a	chr15:43801252-43801267 chr15:43801254-43801269

No.	Distal block	Cell Line	Cell type
1	chr15:43784031..43792065-chr15:43801022..43804774,10	K562	blood:
2	chr15:43803434..43805458-chr15:43818001..43820886,2	K562	blood:
3	chr15:43783239..43787260-chr15:43801022..43804758,8	K562	blood:
4	15:43802874-43806906..15:44001645-44015047	Hela-S3	cervix:
5	chr15:43803384..43806357-chr15:43806530..43809692,3	MCF-7	breast:

Variant related genes	Relation type
TP53BP1	TF binding region
ENSG00000242866	Chromatin interaction
ENSG00000166763	Chromatin interaction
ENSG00000238494	Chromatin interaction
ENSG00000067369	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10152845	1.00[EUR][1000 genomes]
rs16961830	1.00[EUR][1000 genomes]
rs16964662	1.00[EUR][1000 genomes]
rs16965109	1.00[EUR][1000 genomes]
rs2447217	1.00[EUR][1000 genomes]
rs2467416	1.00[EUR][1000 genomes]
rs2614830	1.00[EUR][1000 genomes]
rs28517525	1.00[EUR][1000 genomes]
rs34306395	1.00[EUR][1000 genomes]
rs45561038	1.00[EUR][1000 genomes]
rs62018896	1.00[EUR][1000 genomes]
rs7171920	1.00[EUR][1000 genomes]
rs9972367	1.00[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534649	chr15:43591116-43851142	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	esv1846172	chr15:43632138-44116986	Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	esv1846701	chr15:43759774-44116986	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
4	nsv437799	chr15:43784000-43989518	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv515877	chr15:43802024-43818052	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv518707	chr15:43802024-43826557	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43802400-43806400	Weak transcription	Small Intestine	intestine
2	chr15:43803400-43804400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr15:43803400-43804600	Flanking Active TSS	Brain Angular Gyrus	brain
4	chr15:43803400-43804600	Flanking Active TSS	Brain Cingulate Gyrus	brain
5	chr15:43803400-43804600	Flanking Active TSS	Brain Hippocampus Middle	brain
6	chr15:43803400-43804600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
7	chr15:43803400-43804800	Flanking Active TSS	Brain Anterior Caudate	brain
8	chr15:43803600-43804400	Enhancers	Placenta Amnion	Placenta Amnion
9	chr15:43803600-43808400	Weak transcription	Psoas Muscle	Psoas
10	chr15:43803600-43809400	Weak transcription	Aorta	Aorta
11	chr15:43803600-43809400	Weak transcription	Lung	lung
12	chr15:43803800-43804400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr15:43803800-43804400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr15:43803800-43804400	Flanking Active TSS	Fetal Muscle Leg	muscle
15	chr15:43803800-43804600	Enhancers	Primary hematopoietic stem cells	blood
16	chr15:43803800-43804600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr15:43803800-43804600	Bivalent Enhancer	Fetal Intestine Small	intestine
18	chr15:43803800-43804600	Flanking Active TSS	HSMMtube	muscle
19	chr15:43803800-43806000	Enhancers	K562	blood
20	chr15:43803800-43808400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr15:43803800-43808400	Weak transcription	Esophagus	oesophagus
22	chr15:43803800-43808600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr15:43803800-43809000	Weak transcription	Right Atrium	heart
24	chr15:43804000-43804400	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr15:43804000-43804400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr15:43804000-43804400	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr15:43804000-43804400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
28	chr15:43804000-43804600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr15:43804000-43804600	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr15:43804000-43804600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:43804000-43804600	Enhancers	Fetal Brain Male	brain
32	chr15:43804000-43804600	Enhancers	NHDF-Ad	bronchial
33	chr15:43804000-43804800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr15:43804000-43805200	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr15:43804000-43805200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr15:43804000-43805400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr15:43804000-43805400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:43804000-43805600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr15:43804000-43805600	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:43804000-43805600	Weak transcription	HUVEC	blood vessel
41	chr15:43804000-43805800	Weak transcription	Adipose Nuclei	Adipose
42	chr15:43804000-43806000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr15:43804000-43806000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr15:43804000-43806000	Weak transcription	NH-A	brain
45	chr15:43804000-43806400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr15:43804000-43806400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr15:43804000-43806400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr15:43804000-43806400	Weak transcription	Left Ventricle	heart
49	chr15:43804000-43806600	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr15:43804000-43808000	Weak transcription	Ovary	ovary

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