Variant report

Variant	rs2271962
Chromosome Location	chr15:43426240-43426241
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:178)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:178 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:43425307-43426813	GM12892	blood:	n/a	n/a
2	POLR2A	chr15:43425534-43426536	HEK293	kidney:	n/a	n/a
3	POLR2A	chr15:43425396-43426412	GM18951	blood:	n/a	n/a
4	POLR2A	chr15:43425211-43426350	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr15:43425507-43426680	GM12878	blood:	n/a	n/a
6	POLR2A	chr15:43425391-43426733	GM19193	blood:	n/a	n/a
7	ZBTB7A	chr15:43425138-43426596	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr15:43425279-43426914	MCF10A-Er-Src	breast:	n/a	n/a
9	MAZ	chr15:43425269-43426269	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:43425401-43426311	PFSK-1	brain:	n/a	n/a
11	HCFC1	chr15:43425372-43426391	K562	blood:	n/a	n/a
12	POLR2A	chr15:43425098-43426436	HepG2	liver:	n/a	n/a
13	SIN3AK20	chr15:43425518-43426273	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr15:43425450-43426333	Hela-S3	cervix:	n/a	n/a
15	MAX	chr15:43425512-43426352	SK-N-SH	brain:	n/a	n/a
16	KAP1	chr15:43425086-43426293	HEK293	kidney:	n/a	n/a
17	POLR2A	chr15:43425381-43426655	GM12891	blood:	n/a	n/a
18	POLR2A	chr15:43425441-43426517	GM12892	blood:	n/a	n/a
19	POLR2A	chr15:43425491-43426396	MCF-7	breast:	n/a	n/a
20	CTCF	chr15:43426200-43426350	WERI-Rb-1	eye:	n/a	n/a
21	MYC	chr15:43425831-43426312	MCF-7	breast:	n/a	n/a
22	POLR2A	chr15:43425376-43426849	GM12892	blood:	n/a	n/a
23	ZNF143	chr15:43425562-43426340	GM12878	blood:	n/a	chr15:43425870-43425880
24	MAX	chr15:43425663-43426356	HepG2	liver:	n/a	n/a
25	POLR2A	chr15:43425394-43426780	Raji	blood:	n/a	n/a
26	MYC	chr15:43425316-43426699	K562	blood:	n/a	n/a
27	POLR2A	chr15:43425452-43426673	H1-neurons	neurons:	n/a	n/a
28	CTCF	chr15:43426100-43426250	K562	blood:	n/a	n/a
29	POLR2A	chr15:43425397-43426366	NB4	blood:	n/a	n/a
30	MYC	chr15:43425542-43426310	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr15:43425380-43426578	PBDE	blood:	n/a	n/a
32	CTCF	chr15:43426120-43426270	HBMEC	blood vessel:	n/a	n/a
33	POLR2A	chr15:43425543-43426374	Gliobla	brain:	n/a	n/a
34	MAX	chr15:43425500-43426514	K562	blood:	n/a	n/a
35	POLR2A	chr15:43425438-43426255	HUVEC	blood vessel:	n/a	n/a
36	MAX	chr15:43425227-43426288	K562	blood:	n/a	n/a
37	POLR2A	chr15:43425497-43426430	HepG2	liver:	n/a	n/a
38	SMARCB1	chr15:43425109-43426682	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr15:43426200-43426350	GM12866	blood:	n/a	n/a
40	POLR2A	chr15:43425613-43426454	H1-neurons	neurons:	n/a	n/a
41	POLR2A	chr15:43425299-43426989	GM12878	blood:	n/a	n/a
42	POLR2A	chr15:43425370-43426271	HUVEC	blood vessel:	n/a	n/a
43	CHD1	chr15:43425358-43426427	GM12878	blood:	n/a	n/a
44	BHLHE40	chr15:43425480-43426609	K562	blood:	n/a	chr15:43425797-43425813 chr15:43425933-43425949 chr15:43426202-43426218
45	HA-E2F1	chr15:43425583-43426360	Hela-S3	cervix:	n/a	chr15:43425875-43425885 chr15:43426185-43426197 chr15:43425870-43425880
46	TCF3	chr15:43425489-43426400	GM12878	blood:	n/a	chr15:43426208-43426218 chr15:43425803-43425813
47	MAX	chr15:43425065-43426476	HepG2	liver:	n/a	n/a
48	POLR2A	chr15:43425437-43426317	GM10847	blood:	n/a	n/a
49	CCNT2	chr15:43425533-43426350	K562	blood:	n/a	n/a
50	POLR2A	chr15:43425398-43426781	GM19099	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:43425791..43426365-chr9:74525585..74526547,2	NB4	blood:
2	chr15:43412581..43417001-chr15:43422670..43429913,10	K562	blood:
3	chr15:43406517..43409330-chr15:43424584..43426379,2	MCF-7	breast:
4	chr15:43395932..43399418-chr15:43425897..43428585,4	K562	blood:
5	chr15:43411554..43416767-chr15:43424269..43426823,6	K562	blood:
6	chr15:43396979..43399675-chr15:43425245..43427228,2	MCF-7	breast:
7	chr15:43424880..43427064-chr15:51913097..51915072,2	MCF-7	breast:
8	chr15:43424687..43428034-chr15:43433131..43438698,7	K562	blood:

No data

Variant related genes	Relation type
TMEM62	TF binding region
ENSG00000107362	Chromatin interaction
ENSG00000205871	Chromatin interaction
ENSG00000159459	Chromatin interaction
ENSG00000137842	Chromatin interaction
ENSG00000104093	Chromatin interaction
ENSG00000155621	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13329192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16957431	0.83[ASN][1000 genomes]
rs17720890	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17777687	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1984501	0.85[AMR][1000 genomes]
rs28418723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28445909	0.84[EUR][1000 genomes]
rs28539838	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28575571	0.87[AMR][1000 genomes]
rs28592140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28627318	1.00[AFR][1000 genomes]
rs28664053	0.87[AMR][1000 genomes]
rs28691150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28811106	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9920231	1.00[AFR][1000 genomes]
rs998954	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS 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	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
9	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43424800-43426600	Active TSS	K562	blood
2	chr15:43424800-43426800	Active TSS	A549	lung
3	chr15:43425000-43426400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
4	chr15:43425000-43426400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:43425000-43426400	Active TSS	Brain Cingulate Gyrus	brain
6	chr15:43425000-43426400	Active TSS	Brain Hippocampus Middle	brain
7	chr15:43425000-43426400	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr15:43425000-43426400	Active TSS	Pancreas	Pancrea
9	chr15:43425000-43426400	Active TSS	Stomach Smooth Muscle	stomach
10	chr15:43425000-43426400	Active TSS	NHDF-Ad	bronchial
11	chr15:43425000-43426600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:43425000-43426600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr15:43425000-43426600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr15:43425000-43426600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr15:43425000-43426600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr15:43425000-43426600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr15:43425000-43426600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
18	chr15:43425000-43426600	Active TSS	Brain Substantia Nigra	brain
19	chr15:43425000-43426600	Active TSS	Colonic Mucosa	Colon
20	chr15:43425000-43426600	Active TSS	Right Atrium	heart
21	chr15:43425000-43426600	Bivalent/Poised TSS	HepG2	liver
22	chr15:43425000-43427000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr15:43425000-43427000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr15:43425000-43427000	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr15:43425000-43427000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr15:43425000-43427000	Flanking Active TSS	Dnd41	blood
27	chr15:43425000-43427200	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr15:43425000-43427200	Active TSS	Fetal Intestine Large	intestine
29	chr15:43425200-43426400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:43425200-43426400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:43425200-43426400	Active TSS	Brain Angular Gyrus	brain
32	chr15:43425200-43426400	Active TSS	Ovary	ovary
33	chr15:43425200-43426600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
34	chr15:43425200-43426600	Active TSS	Brain Anterior Caudate	brain
35	chr15:43425200-43426600	Active TSS	Gastric	stomach
36	chr15:43425200-43426600	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr15:43425200-43426600	Active TSS	Stomach Mucosa	stomach
38	chr15:43425200-43426600	Active TSS	Spleen	Spleen
39	chr15:43425200-43426800	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:43425200-43426800	Flanking Active TSS	Primary B cells from cord blood	blood
41	chr15:43425200-43426800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
42	chr15:43425200-43426800	Active TSS	Aorta	Aorta
43	chr15:43425200-43426800	Active TSS	Fetal Kidney	kidney
44	chr15:43425200-43426800	Active TSS	Left Ventricle	heart
45	chr15:43425200-43426800	Active TSS	Lung	lung
46	chr15:43425200-43426800	Active TSS	Psoas Muscle	Psoas
47	chr15:43425200-43426800	Active TSS	GM12878-XiMat	blood
48	chr15:43425400-43426400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr15:43425400-43426400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:43425400-43426400	Active TSS	Primary T helper naive cells from peripheral blood	blood

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