Variant report

Variant	rs6705046
Chromosome Location	chr2:113017065-113017066
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELK1	chr2:113017048-113017326	GM12878	blood:	n/a	n/a
2	BRCA1	chr2:113017049-113017541	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr2:113017063-113017310	HepG2	liver:	n/a	n/a
4	MTA3	chr2:113016837-113017572	GM12878	blood:	n/a	n/a
5	CTCF	chr2:113017044-113017319	GM10266	blood:	n/a	n/a
6	CTCF	chr2:113017058-113017309	GM10248	blood:	n/a	n/a
7	CEBPB	chr2:113017016-113017391	HepG2	liver:	n/a	n/a
8	YY1	chr2:113016976-113017398	H1-hESC	embryonic stem cell:	n/a	n/a
9	SMC3	chr2:113016775-113017820	SK-N-SH	brain:	n/a	n/a
10	TBL1XR1	chr2:113016964-113017347	GM12878	blood:	n/a	n/a
11	RCOR1	chr2:113017031-113017375	K562	blood:	n/a	n/a
12	YY1	chr2:113016957-113017505	GM12878	blood:	n/a	n/a
13	RAD21	chr2:113016936-113017664	HepG2	liver:	n/a	n/a
14	MYC	chr2:113017031-113017336	MCF10A-Er-Src	breast:	n/a	n/a
15	CEBPB	chr2:113017009-113017419	A549	lung:	n/a	n/a
16	YY1	chr2:113017035-113017426	K562	blood:	n/a	n/a
17	CEBPB	chr2:113017059-113017418	IMR90	lung:	n/a	n/a
18	MAX	chr2:113017034-113017372	GM12878	blood:	n/a	n/a
19	RUNX3	chr2:113017001-113017448	GM12878	blood:	n/a	n/a
20	CEBPB	chr2:113016900-113017531	A549	lung:	n/a	n/a
21	RAD21	chr2:113016959-113017454	A549	lung:	n/a	n/a
22	YY1	chr2:113016995-113017395	GM12891	blood:	n/a	n/a
23	CTCF	chr2:113016991-113017364	MCF-7	breast:	n/a	n/a
24	CEBPB	chr2:113016995-113017452	K562	blood:	n/a	n/a
25	CTCF	chr2:113017046-113017350	NHEK	skin:	n/a	n/a
26	CTCF	chr2:113016994-113017381	T-47D	breast:	n/a	n/a
27	WRNIP1	chr2:113016935-113017387	GM12878	blood:	n/a	n/a
28	CTCF	chr2:113017057-113017311	GM13977	blood:	n/a	n/a
29	TEAD4	chr2:113016962-113017508	H1-hESC	embryonic stem cell:	n/a	n/a
30	RAD21	chr2:113016840-113017610	HCT-116	colon:	n/a	n/a
31	MAZ	chr2:113017007-113017315	GM12878	blood:	n/a	n/a
32	CTCF	chr2:113017053-113017375	Pancreas_OC	pancreas:	n/a	n/a
33	ARID3A	chr2:113017050-113017410	HepG2	liver:	n/a	n/a
34	SMC3	chr2:113016992-113017394	Hela-S3	cervix:	n/a	n/a
35	YY1	chr2:113017052-113017446	SK-N-SH	brain:	n/a	n/a
36	CTCF	chr2:113017057-113017334	Hela-S3	cervix:	n/a	n/a
37	RAD21	chr2:113016689-113017971	SK-N-SH	brain:	n/a	n/a
38	RAD21	chr2:113016978-113017437	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr2:113017050-113017358	GM19239	blood:	n/a	n/a
40	RAD21	chr2:113016989-113017397	GM12878	blood:	n/a	n/a
41	POLR2A	chr2:113017026-113017334	HCT-116	colon:	n/a	n/a
42	YY1	chr2:113017035-113017358	K562	blood:	n/a	n/a
43	RAD21	chr2:113017009-113017391	A549	lung:	n/a	n/a
44	IRF4	chr2:113016941-113017416	GM12878	blood:	n/a	n/a
45	CEBPB	chr2:113016928-113017445	MCF-7	breast:	n/a	n/a
46	TEAD4	chr2:113016912-113017461	HepG2	liver:	n/a	n/a
47	YY1	chr2:113017001-113017393	GM12891	blood:	n/a	n/a
48	RAD21	chr2:113016886-113017394	H1-hESC	embryonic stem cell:	n/a	n/a
49	EP300	chr2:113017028-113017214	HepG2	liver:	n/a	n/a
50	CTCF	chr2:113016991-113017355	Gliobla	brain:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:113013729..113015547-chr2:113015611..113017197,2	K562	blood:
2	chr2:113016830..113017619-chr2:113102898..113103578,3	MCF-7	breast:
3	chr2:113017037..113018565-chr2:113020513..113022540,2	MCF-7	breast:
4	chr2:113015323..113017823-chr2:113341414..113343935,3	K562	blood:
5	chr2:113012803..113017644-chr2:113018976..113023020,5	K562	blood:
6	chr2:113009620..113015521-chr2:113015637..113020562,9	K562	blood:
7	chr2:113016144..113018548-chr2:113019194..113021994,2	K562	blood:
8	chr2:113015328..113018702-chr2:113341013..113343935,4	K562	blood:
9	chr2:112813000..112815261-chr2:113015574..113017538,2	K562	blood:

No data

Variant related genes	Relation type
ZC3H8	TF binding region
ENSG00000153214	Chromatin interaction
ENSG00000125611	Chromatin interaction
ENSG00000144161	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10168915	1.00[ASN][1000 genomes]
rs10170258	1.00[ASN][1000 genomes]
rs10171359	1.00[ASN][1000 genomes]
rs10172159	0.85[EUR][1000 genomes]
rs10172310	1.00[ASN][1000 genomes]
rs10175344	1.00[ASN][1000 genomes]
rs10180018	1.00[ASN][1000 genomes]
rs10182451	1.00[ASN][1000 genomes]
rs10182764	1.00[ASN][1000 genomes]
rs10182931	1.00[ASN][1000 genomes]
rs10183003	1.00[ASN][1000 genomes]
rs10185224	1.00[ASN][1000 genomes]
rs10197735	1.00[ASN][1000 genomes]
rs10201778	1.00[ASN][1000 genomes]
rs10204140	1.00[ASN][1000 genomes]
rs10204243	1.00[ASN][1000 genomes]
rs10204653	1.00[ASN][1000 genomes]
rs10206255	1.00[ASN][1000 genomes]
rs12328678	1.00[ASN][1000 genomes]
rs13313775	1.00[ASN][1000 genomes]
rs13383743	1.00[ASN][1000 genomes]
rs13391959	1.00[ASN][1000 genomes]
rs13394094	1.00[ASN][1000 genomes]
rs13400334	0.85[EUR][1000 genomes]
rs13401258	1.00[ASN][1000 genomes]
rs13411851	1.00[ASN][1000 genomes]
rs13412743	1.00[ASN][1000 genomes]
rs13417413	1.00[ASN][1000 genomes]
rs13418394	1.00[ASN][1000 genomes]
rs13421261	1.00[ASN][1000 genomes]
rs13422534	1.00[ASN][1000 genomes]
rs13424713	1.00[ASN][1000 genomes]
rs13431260	1.00[ASN][1000 genomes]
rs17041977	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56371451	1.00[ASN][1000 genomes]
rs60947478	0.85[EUR][1000 genomes]
rs67246870	1.00[ASN][1000 genomes]
rs72825696	1.00[ASN][1000 genomes]
rs72829620	1.00[ASN][1000 genomes]
rs72829658	1.00[ASN][1000 genomes]
rs72943913	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9631022	1.00[ASN][1000 genomes]
rs9631023	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	esv3422414	chr2:112883450-113200285	Strong transcription Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv582703	chr2:112920219-113100014	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv874867	chr2:112930064-113038409	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	esv1805614	chr2:112949713-113048705	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
8	nsv949573	chr2:112986955-113320975	Strong transcription Active TSS Enhancers Weak transcription Flanking 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	48 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	chr2:113012600-113017200	Weak transcription	Stomach Mucosa	stomach
2	chr2:113012800-113017200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:113013000-113017200	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:113013000-113017200	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr2:113013000-113017200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr2:113013000-113017200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:113013000-113017200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr2:113013000-113017200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr2:113013000-113017200	Weak transcription	Pancreas	Pancrea
10	chr2:113013000-113017400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:113013000-113018200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr2:113013000-113018200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:113013200-113017200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr2:113013200-113017200	Weak transcription	Hela-S3	cervix
15	chr2:113013400-113017200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr2:113013400-113017200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr2:113013800-113017200	Weak transcription	Primary T cells from cord blood	blood
18	chr2:113013800-113017200	Weak transcription	Dnd41	blood
19	chr2:113013800-113017200	Weak transcription	GM12878-XiMat	blood
20	chr2:113014000-113017200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:113014000-113017200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr2:113016000-113017200	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr2:113016800-113017200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:113016800-113017200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:113016800-113017200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:113016800-113017200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr2:113016800-113017200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr2:113016800-113017200	Enhancers	Fetal Kidney	kidney
29	chr2:113016800-113017400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:113016800-113017600	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr2:113016800-113017600	Enhancers	Fetal Heart	heart
32	chr2:113017000-113017200	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr2:113017000-113017200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr2:113017000-113017200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr2:113017000-113017200	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr2:113017000-113017200	Active TSS	Brain Substantia Nigra	brain
37	chr2:113017000-113017200	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:113017000-113017200	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:113017000-113017200	Enhancers	Psoas Muscle	Psoas
40	chr2:113017000-113017200	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:113017000-113017200	Flanking Active TSS	A549	lung
42	chr2:113017000-113017200	Flanking Active TSS	HepG2	liver
43	chr2:113017000-113017200	Active TSS	Osteobl	bone
44	chr2:113017000-113017400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:113017000-113017400	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr2:113017000-113017400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr2:113017000-113017400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:113017000-113017400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:113017000-113017400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr2:113017000-113017400	Enhancers	Fetal Intestine Small	intestine

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