Variant report

Variant	rs4491448
Chromosome Location	chr15:52323503-52323504
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	chr15:52323332-52324089	A549	lung:	n/a	n/a
2	POLR2A	chr15:52323366-52323842	K562	blood:	n/a	n/a
3	POLR2A	chr15:52323429-52324066	HepG2	liver:	n/a	n/a
4	CTCF	chr15:52323360-52323510	HEEpiC	esophagus:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:52320796..52323655-chr15:52329360..52331417,2	MCF-7	breast:
2	chr15:52262832..52265688-chr15:52320899..52325318,4	MCF-7	breast:
3	chr15:52316126..52317636-chr15:52323206..52325884,2	K562	blood:

Variant related genes	Relation type
ENSG00000259398	TF binding region
ENSG00000069956	Chromatin interaction
ENSG00000166477	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10518675	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs16964694	0.88[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16964700	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs16964705	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16964720	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs17540338	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17612255	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17612326	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2246726	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2414120	1.00[EUR][1000 genomes]
rs2414123	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2441779	1.00[EUR][1000 genomes]
rs2470593	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2470594	1.00[EUR][1000 genomes]
rs2470595	0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs2899484	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4375608	1.00[EUR][1000 genomes]
rs4456445	1.00[EUR][1000 genomes]
rs4775995	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4775996	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs4775997	0.88[CHB][hapmap]
rs55714716	1.00[EUR][1000 genomes]
rs56677715	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7177328	0.88[CHB][hapmap];1.00[JPT][hapmap]
rs74013653	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74013657	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74013659	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7497554	1.00[JPT][hapmap]
rs751560	0.86[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8033840	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8041281	1.00[EUR][1000 genomes]
rs9796534	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047260	chr15:52257100-52337418	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv1050664	chr15:52265723-52342101	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv530681	chr15:52297253-52390470	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv471244	chr15:52305463-52511465	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv984198	chr15:52319726-52481137	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:52312800-52345400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr15:52313400-52325400	Weak transcription	Aorta	Aorta
3	chr15:52313600-52324800	Weak transcription	Fetal Stomach	stomach
4	chr15:52313600-52325400	Weak transcription	Thymus	Thymus
5	chr15:52313800-52329400	Weak transcription	Fetal Heart	heart
6	chr15:52314400-52325400	Weak transcription	Fetal Lung	lung
7	chr15:52314400-52359800	Weak transcription	Fetal Brain Male	brain
8	chr15:52314600-52323800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr15:52314600-52325200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:52314600-52325400	Weak transcription	Esophagus	oesophagus
11	chr15:52314600-52325400	Weak transcription	HSMM	muscle
12	chr15:52314600-52330600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr15:52314600-52332200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr15:52314800-52324600	Weak transcription	Fetal Muscle Leg	muscle
15	chr15:52314800-52325000	Weak transcription	Fetal Brain Female	brain
16	chr15:52314800-52325200	Weak transcription	NHDF-Ad	bronchial
17	chr15:52314800-52325400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:52314800-52325400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr15:52314800-52325400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr15:52314800-52325400	Weak transcription	Duodenum Mucosa	Duodenum
21	chr15:52314800-52325400	Weak transcription	Right Ventricle	heart
22	chr15:52314800-52329400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr15:52314800-52330200	Weak transcription	Ovary	ovary
24	chr15:52314800-52330200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr15:52314800-52331200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr15:52315200-52324800	Weak transcription	Fetal Thymus	thymus
27	chr15:52315200-52331800	Weak transcription	Colonic Mucosa	Colon
28	chr15:52315600-52325400	Weak transcription	Fetal Kidney	kidney
29	chr15:52315600-52325400	Weak transcription	Gastric	stomach
30	chr15:52315600-52325400	Weak transcription	HUVEC	blood vessel
31	chr15:52315600-52325600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr15:52315600-52329400	Weak transcription	Right Atrium	heart
33	chr15:52315600-52332200	Weak transcription	NHLF	lung
34	chr15:52315800-52325000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr15:52315800-52325600	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr15:52315800-52325600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:52315800-52328400	Weak transcription	Adipose Nuclei	Adipose
38	chr15:52316000-52325400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:52316000-52325400	Weak transcription	Left Ventricle	heart
40	chr15:52316000-52325800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr15:52316000-52330400	Weak transcription	Psoas Muscle	Psoas
42	chr15:52316000-52330600	Weak transcription	Pancreas	Pancrea
43	chr15:52316000-52332200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr15:52316200-52325000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr15:52317400-52330600	Weak transcription	Small Intestine	intestine
46	chr15:52317400-52332200	Weak transcription	Lung	lung
47	chr15:52318400-52325200	Weak transcription	Primary hematopoietic stem cells	blood
48	chr15:52318800-52323800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr15:52320400-52324400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr15:52321000-52324200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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