Variant report

Variant	rs60748295
Chromosome Location	chr15:42120835-42120836
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:42119619-42120981	U87	brain:	n/a	n/a
2	MTA3	chr15:42119349-42121169	GM12878	blood:	n/a	n/a
3	POLR2A	chr15:42119620-42121274	HepG2	liver:	n/a	n/a
4	MAX	chr15:42120247-42120924	H1-hESC	embryonic stem cell:	n/a	chr15:42120711-42120720
5	POLR2A	chr15:42119997-42120907	A549	lung:	n/a	n/a
6	MAX	chr15:42119614-42121141	NB4	blood:	n/a	chr15:42120711-42120720
7	POLR2A	chr15:42119363-42120867	PANC-1	pancreas:	n/a	n/a
8	RAD21	chr15:42120302-42121154	IMR90	lung:	n/a	n/a
9	MAX	chr15:42119882-42120952	A549	lung:	n/a	chr15:42120711-42120720
10	MAX	chr15:42119920-42120882	A549	lung:	n/a	chr15:42120711-42120720
11	BACH1	chr15:42120297-42120875	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr15:42119923-42121332	IMR90	lung:	n/a	n/a
13	TBP	chr15:42120013-42120842	K562	blood:	n/a	n/a
14	MAX	chr15:42120201-42120854	H1-hESC	embryonic stem cell:	n/a	chr15:42120711-42120720
15	E2F4	chr15:42120138-42121145	MCF10A-Er-Src	breast:	n/a	n/a
16	SIN3A	chr15:42119499-42120903	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr15:42119707-42120878	PFSK-1	brain:	n/a	n/a
18	POLR2A	chr15:42119647-42120882	U87	brain:	n/a	n/a
19	POLR2A	chr15:42119453-42121180	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr15:42119940-42121116	H1-neurons	neurons:	n/a	n/a
21	TBL1XR1	chr15:42120636-42120836	K562	blood:	n/a	n/a
22	POLR2A	chr15:42119733-42121003	MCF10A-Er-Src	breast:	n/a	n/a
23	MAX	chr15:42119414-42120946	ECC-1	luminal epithelium:	n/a	chr15:42120711-42120720
24	POLR2A	chr15:42119550-42120948	K562	blood:	n/a	n/a
25	SIN3A	chr15:42120312-42121011	GM12878	blood:	n/a	n/a
26	POU2F2	chr15:42120365-42120837	GM12878	blood:	n/a	n/a
27	CHD1	chr15:42119440-42121272	IMR90	lung:	n/a	n/a
28	POLR2A	chr15:42118747-42121099	PANC-1	pancreas:	n/a	n/a
29	SIN3AK20	chr15:42119783-42120944	MCF-7	breast:	n/a	n/a
30	MXI1	chr15:42119453-42121231	IMR90	lung:	n/a	n/a
31	POLR2A	chr15:42119942-42121107	MCF10A-Er-Src	breast:	n/a	n/a
32	RUNX3	chr15:42119545-42120882	GM12878	blood:	n/a	n/a
33	CEBPB	chr15:42120342-42121054	IMR90	lung:	n/a	n/a
34	REST	chr15:42119936-42121154	H1-neurons	neurons:	n/a	n/a
35	MAX	chr15:42119550-42120872	K562	blood:	n/a	chr15:42120711-42120720
36	HDAC2	chr15:42120357-42120880	H1-hESC	embryonic stem cell:	n/a	n/a
37	CEBPB	chr15:42120364-42120958	K562	blood:	n/a	n/a
38	TEAD4	chr15:42120198-42121109	K562	blood:	n/a	n/a
39	MYC	chr15:42119717-42120850	K562	blood:	n/a	chr15:42120711-42120720
40	SIN3AK20	chr15:42120209-42120853	H1-hESC	embryonic stem cell:	n/a	n/a
41	TCF12	chr15:42119360-42120886	ECC-1	luminal epithelium:	n/a	chr15:42120521-42120531
42	MXI1	chr15:42119785-42121174	GM12878	blood:	n/a	n/a
43	POLR2A	chr15:42119968-42121264	H1-neurons	neurons:	n/a	n/a
44	STAT3	chr15:42120249-42120880	MCF10A-Er-Src	breast:	n/a	n/a
45	RUNX3	chr15:42119961-42120886	GM12878	blood:	n/a	n/a
46	MAZ	chr15:42119611-42121242	IMR90	lung:	n/a	chr15:42120711-42120720
47	POLR2A	chr15:42119409-42120975	K562	blood:	n/a	n/a
48	CEBPB	chr15:42120195-42121046	Hela-S3	cervix:	n/a	n/a
49	TEAD4	chr15:42119458-42120936	ECC-1	luminal epithelium:	n/a	n/a
50	MYC	chr15:42119636-42120953	NB4	blood:	n/a	chr15:42120711-42120720

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:42120330..42121195-chr9:96212843..96213666,2	Hela-S3	cervix:
2	chr15:42120261..42121983-chr15:42263562..42265205,2	MCF-7	breast:
3	chr15:42106183..42109859-chr15:42118195..42121802,3	K562	blood:
4	chr15:42119169..42123691-chr15:42124459..42130624,7	MCF-7	breast:
5	chr15:42065876..42068807-chr15:42118615..42122663,5	K562	blood:
6	chr15:42119559..42121524-chr15:42137744..42139506,3	K562	blood:
7	chr15:42119641..42122495-chr15:42123255..42125312,3	K562	blood:
8	chr15:42102419..42105107-chr15:42118936..42121739,2	MCF-7	breast:
9	chr15:42114563..42118600-chr15:42118704..42121383,3	K562	blood:
10	chr15:42119185..42121349-chr15:42128797..42131937,4	MCF-7	breast:
11	chr15:42119178..42121855-chr15:42127765..42129934,4	K562	blood:

No data

Variant related genes	Relation type
JMJD7	TF binding region
ENSG00000250379	TF binding region
ENSG00000168970	Chromatin interaction
ENSG00000188938	Chromatin interaction
ENSG00000137802	Chromatin interaction
ENSG00000243789	Chromatin interaction
ENSG00000246740	Chromatin interaction
ENSG00000243708	Chromatin interaction
ENSG00000103966	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13380105	1.00[AMR][1000 genomes]
rs3743028	0.92[AFR][1000 genomes]
rs57553479	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931223	chr15:41989960-42781757	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	esv2757597	chr15:42047173-42122617	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2760027	chr15:42047173-42122617	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS 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	25 gene(s)	inside rSNPs	diseases
4	nsv427958	chr15:42051317-42301283	Strong transcription Weak transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv904115	chr15:42076387-42171483	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
6	nsv904116	chr15:42076387-42229852	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
7	nsv1038393	chr15:42083574-42188035	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
8	esv1827003	chr15:42087505-42199076	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
9	esv1816120	chr15:42093384-42171578	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
10	nsv1041645	chr15:42095168-42186482	Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1051200	chr15:42095168-42188035	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
12	nsv517631	chr15:42096926-42187492	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
13	nsv1051733	chr15:42098896-42186482	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
14	nsv1036153	chr15:42098896-42188035	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
15	nsv1035998	chr15:42098896-42434254	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
16	nsv1048606	chr15:42101694-42192760	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
17	nsv904117	chr15:42103822-42184794	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
18	nsv904118	chr15:42103822-42207905	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
19	nsv904119	chr15:42109975-42142912	Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
20	nsv904120	chr15:42109975-42153085	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv904121	chr15:42109975-42162957	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
22	nsv904122	chr15:42109975-42166475	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
23	nsv904123	chr15:42109975-42171483	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
24	nsv904124	chr15:42109975-42207905	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
25	nsv9244	chr15:42110712-42208805	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
26	nsv904125	chr15:42119900-42210393	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 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	chr15:42119400-42121000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr15:42119400-42121000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr15:42119400-42121000	Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr15:42119400-42121000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:42119400-42121000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr15:42119400-42121000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr15:42119400-42121200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr15:42119400-42121200	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr15:42119400-42121200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr15:42119400-42121200	Active TSS	Thymus	Thymus
11	chr15:42119600-42121000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr15:42119600-42121000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:42119600-42121000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr15:42119600-42121000	Active TSS	Brain Hippocampus Middle	brain
15	chr15:42119600-42121000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr15:42119600-42121000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:42119600-42121000	Active TSS	Fetal Kidney	kidney
18	chr15:42119600-42121000	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr15:42119600-42121000	Active TSS	A549	lung
20	chr15:42119600-42121000	Active TSS	NHDF-Ad	bronchial
21	chr15:42119600-42121200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr15:42119600-42121200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr15:42119600-42121400	Active TSS	Aorta	Aorta
24	chr15:42119800-42121000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:42119800-42121000	Active TSS	Brain Angular Gyrus	brain
26	chr15:42119800-42121000	Active TSS	Brain Anterior Caudate	brain
27	chr15:42119800-42121000	Active TSS	Colon Smooth Muscle	Colon
28	chr15:42119800-42121000	Active TSS	Fetal Stomach	stomach
29	chr15:42119800-42121000	Active TSS	Gastric	stomach
30	chr15:42119800-42121200	Active TSS	Left Ventricle	heart
31	chr15:42119800-42121200	Active TSS	Lung	lung
32	chr15:42119800-42121200	Active TSS	Ovary	ovary
33	chr15:42119800-42121400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr15:42119800-42121400	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr15:42119800-42121400	Active TSS	Esophagus	oesophagus
36	chr15:42120000-42121000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr15:42120000-42121000	Active TSS	Pancreas	Pancrea
38	chr15:42120000-42121000	Active TSS	Right Ventricle	heart
39	chr15:42120000-42121000	Active TSS	Stomach Mucosa	stomach
40	chr15:42120000-42121200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr15:42120000-42121200	Active TSS	Fetal Brain Male	brain
42	chr15:42120000-42121200	Active TSS	Fetal Intestine Large	intestine
43	chr15:42120000-42121200	Active TSS	Fetal Thymus	thymus
44	chr15:42120000-42121200	Active TSS	Psoas Muscle	Psoas
45	chr15:42120000-42121400	Active TSS	Colonic Mucosa	Colon
46	chr15:42120200-42121200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr15:42120400-42121200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr15:42120400-42121200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr15:42120400-42121400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr15:42120400-42121400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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