Variant report

Variant	rs35507976
Chromosome Location	chr2:112656063-112656064
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:134)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:134 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr2:112655559-112656071	K562	blood:	n/a	chr2:112655716-112655729 chr2:112655716-112655729 chr2:112655716-112655729
2	GABPA	chr2:112655504-112656143	SK-N-SH	brain:	n/a	n/a
3	POLR2A	chr2:112655134-112656651	GM12878	blood:	n/a	n/a
4	MYC	chr2:112655275-112656623	NB4	blood:	n/a	chr2:112656516-112656526
5	TBP	chr2:112656051-112656333	K562	blood:	n/a	n/a
6	TAF7	chr2:112656050-112656409	H1-hESC	embryonic stem cell:	n/a	n/a
7	REST	chr2:112656032-112656464	HepG2	liver:	n/a	chr2:112656204-112656217
8	SRF	chr2:112656024-112656371	K562	blood:	n/a	n/a
9	POLR2A	chr2:112656037-112656369	A549	lung:	n/a	n/a
10	UBTF	chr2:112655329-112656383	K562	blood:	n/a	n/a
11	TCF12	chr2:112655771-112656473	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:112656058-112656308	A549	lung:	n/a	n/a
13	TBP	chr2:112655217-112656621	HepG2	liver:	n/a	n/a
14	MAX	chr2:112655327-112656432	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr2:112656014-112656374	ECC-1	luminal epithelium:	n/a	n/a
16	MXI1	chr2:112655196-112657046	GM12878	blood:	n/a	n/a
17	SIN3AK20	chr2:112656053-112656620	H1-hESC	embryonic stem cell:	n/a	n/a
18	NFIC	chr2:112656038-112656418	HepG2	liver:	n/a	n/a
19	CREB1	chr2:112654908-112656986	HepG2	liver:	n/a	n/a
20	ZBTB7A	chr2:112655340-112656687	ECC-1	luminal epithelium:	n/a	chr2:112655643-112655652
21	ZBTB7A	chr2:112655355-112656710	ECC-1	luminal epithelium:	n/a	chr2:112655643-112655652
22	POLR2A	chr2:112655469-112656466	A549	lung:	n/a	n/a
23	CEBPD	chr2:112655408-112656644	HepG2	liver:	n/a	n/a
24	TAF1	chr2:112655319-112656993	HepG2	liver:	n/a	n/a
25	FOXP2	chr2:112656042-112656695	PFSK-1	brain:	n/a	n/a
26	TBP	chr2:112655426-112656944	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr2:112655339-112656413	HepG2	liver:	n/a	n/a
28	MAX	chr2:112656006-112656781	H1-hESC	embryonic stem cell:	n/a	chr2:112656516-112656526
29	HDAC2	chr2:112656002-112656216	K562	blood:	n/a	n/a
30	POLR2A	chr2:112655423-112656599	HEK293	kidney:	n/a	n/a
31	POLR2A	chr2:112656057-112656375	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr2:112656029-112656452	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr2:112655333-112656588	GM19099	blood:	n/a	n/a
34	TCF12	chr2:112655217-112656572	A549	lung:	n/a	n/a
35	HEY1	chr2:112656057-112656406	HepG2	liver:	n/a	n/a
36	ZMIZ1	chr2:112656063-112656257	K562	blood:	n/a	n/a
37	HMGN3	chr2:112655139-112657068	K562	blood:	n/a	n/a
38	MXI1	chr2:112655002-112657404	SK-N-SH	brain:	n/a	n/a
39	EP300	chr2:112655302-112656419	HepG2	liver:	n/a	n/a
40	POLR2A	chr2:112655428-112656499	GM18951	blood:	n/a	n/a
41	MYBL2	chr2:112655252-112656771	HepG2	liver:	n/a	n/a
42	POLR2A	chr2:112656035-112656483	PFSK-1	brain:	n/a	n/a
43	MAX	chr2:112655293-112657009	HepG2	liver:	n/a	chr2:112656516-112656526
44	POLR2A	chr2:112655592-112656394	GM19193	blood:	n/a	n/a
45	POLR2A	chr2:112655254-112656727	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:112655024-112656765	HepG2	liver:	n/a	n/a
47	POLR2A	chr2:112655357-112656623	HUVEC	blood vessel:	n/a	n/a
48	POLR2A	chr2:112655625-112656428	HCT-116	colon:	n/a	n/a
49	POLR2A	chr2:112655384-112656308	MCF-7	breast:	n/a	n/a
50	CCNT2	chr2:112655405-112656949	K562	blood:	n/a	chr2:112655529-112655538 chr2:112656403-112656412

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:112640266..112649080-chr2:112649576..112660203,14	MCF-7	breast:
2	chr2:112654702..112658000-chr2:112810291..112813027,3	K562	blood:
3	chr1:144533868..144534647-chr2:112655787..112656607,2	HCT-116	colon:
4	chr2:112652127..112657107-chr2:112810449..112814378,4	K562	blood:
5	chr2:112654612..112656528-chr2:112812544..112814421,2	MCF-7	breast:
6	chr2:112653818..112657765-chr2:112811676..112815783,10	MCF-7	breast:
7	chr2:112639319..112643119-chr2:112654632..112657707,5	K562	blood:
8	chr14:58893841..58894558-chr2:112655563..112656149,2	HCT-116	colon:
9	chr2:112641269..112644137-chr2:112654774..112658202,3	MCF-7	breast:
10	chr14:20937129..20937919-chr2:112655605..112656367,2	NB4	blood:
11	chr2:112639278..112642827-chr2:112654632..112657057,4	K562	blood:

No data

Variant related genes	Relation type
MERTK	TF binding region
ENSG00000236307	Chromatin interaction
ENSG00000153214	Chromatin interaction
ENSG00000198805	Chromatin interaction
ENSG00000201699	Chromatin interaction
ENSG00000100575	Chromatin interaction
ENSG00000153107	Chromatin interaction
ENSG00000100578	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10496439	0.89[EUR][1000 genomes]
rs11673729	0.89[EUR][1000 genomes]
rs11678522	0.88[EUR][1000 genomes]
rs11686647	0.85[EUR][1000 genomes]
rs11687451	0.87[EUR][1000 genomes]
rs13006203	0.89[EUR][1000 genomes]
rs13013340	0.81[EUR][1000 genomes]
rs13027171	0.85[EUR][1000 genomes]
rs17174697	0.89[EUR][1000 genomes]
rs17779482	0.89[EUR][1000 genomes]
rs1967530	0.89[EUR][1000 genomes]
rs2871876	0.89[EUR][1000 genomes]
rs34928784	0.89[EUR][1000 genomes]
rs34974369	0.85[EUR][1000 genomes]
rs34983493	0.89[EUR][1000 genomes]
rs35735892	0.85[EUR][1000 genomes]
rs4264571	0.88[EUR][1000 genomes]
rs4848229	0.81[EUR][1000 genomes]
rs4848861	0.88[EUR][1000 genomes]
rs4848874	0.87[EUR][1000 genomes]
rs6541942	0.89[EUR][1000 genomes]
rs6731215	0.83[EUR][1000 genomes]
rs6736093	0.89[EUR][1000 genomes]
rs6743523	0.81[EUR][1000 genomes]
rs6755101	0.89[EUR][1000 genomes]
rs7349221	0.88[EUR][1000 genomes]
rs7370418	0.81[EUR][1000 genomes]
rs74182850	0.87[EUR][1000 genomes]
rs7595212	0.89[EUR][1000 genomes]
rs7604403	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1803356	chr2:111899783-112662597	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv428402	chr2:111899783-112662597	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	esv1801950	chr2:111899783-112746937	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv2757825	chr2:111899783-112746937	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv2759083	chr2:111899783-112746937	Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv834333	chr2:112490211-112658347	Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv874863	chr2:112591224-113157344	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv874864	chr2:112617280-113104142	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
9	nsv874865	chr2:112623098-113049274	Enhancers Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
10	nsv961869	chr2:112645626-112660962	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv1013218	chr2:112645633-112908416	Weak transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
12	nsv998028	chr2:112649472-112734015	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
13	nsv582701	chr2:112649472-112740597	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv526647	chr2:112651316-112738562	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
15	nsv582702	chr2:112651316-112738562	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	esv3437465	chr2:112654906-112657454	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 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	chr2:112655000-112657000	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr2:112655000-112657400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr2:112655000-112657400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:112655000-112657600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:112655000-112658200	Active TSS	Brain Hippocampus Middle	brain
6	chr2:112655200-112656200	Bivalent/Poised TSS	GM12878-XiMat	blood
7	chr2:112655200-112656400	Active TSS	Colonic Mucosa	Colon
8	chr2:112655200-112656400	Active TSS	Placenta	Placenta
9	chr2:112655200-112656600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr2:112655200-112656600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr2:112655200-112657200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:112655200-112657200	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr2:112655200-112657200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr2:112655200-112657400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr2:112655200-112657400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr2:112655200-112657600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:112655200-112657600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr2:112655200-112657600	Active TSS	Left Ventricle	heart
19	chr2:112655200-112658000	Active TSS	Fetal Intestine Large	intestine
20	chr2:112655200-112658200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:112655200-112659400	Active TSS	Right Atrium	heart
22	chr2:112655400-112656200	Active TSS	HSMMtube	muscle
23	chr2:112655400-112656200	Active TSS	NHLF	lung
24	chr2:112655400-112656400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:112655400-112656600	Active TSS	HUES64 Cell Line	embryonic stem cell
26	chr2:112655400-112656600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:112655400-112656600	Bivalent/Poised TSS	Fetal Stomach	stomach
28	chr2:112655400-112656800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr2:112655400-112656800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr2:112655400-112656800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:112655400-112656800	Flanking Bivalent TSS/Enh	Thymus	Thymus
32	chr2:112655400-112656800	Bivalent/Poised TSS	HepG2	liver
33	chr2:112655400-112657200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:112655400-112657200	Active TSS	A549	lung
35	chr2:112655400-112657400	Active TSS	Fetal Kidney	kidney
36	chr2:112655400-112657600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:112655400-112657600	Active TSS	Ovary	ovary
38	chr2:112655400-112657800	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:112655400-112657800	Active TSS	Brain Angular Gyrus	brain
40	chr2:112655400-112657800	Active TSS	Colon Smooth Muscle	Colon
41	chr2:112655400-112658200	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr2:112655400-112658800	Active TSS	Aorta	Aorta
43	chr2:112655600-112656200	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr2:112655600-112656200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:112655600-112656200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
46	chr2:112655600-112656200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:112655600-112656200	Active TSS	Fetal Muscle Trunk	muscle
48	chr2:112655600-112656200	Active TSS	Fetal Muscle Leg	muscle
49	chr2:112655600-112656200	Bivalent/Poised TSS	Fetal Thymus	thymus
50	chr2:112655600-112656200	Active TSS	Dnd41	blood

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