Variant report

Variant	rs4880759
Chromosome Location	chr10:1093992-1093993
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:77)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:77 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:1093899-1095858	GM12892	blood:	n/a	n/a
2	SMARCB1	chr10:1093960-1095940	Hela-S3	cervix:	n/a	n/a
3	JUND	chr10:1093917-1095853	K562	blood:	n/a	chr10:1095413-1095422
4	POLR2A	chr10:1093963-1095929	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr10:1093438-1096809	GM18505	blood:	n/a	n/a
6	MAX	chr10:1093847-1095973	K562	blood:	n/a	n/a
7	POLR2A	chr10:1093832-1095961	K562	blood:	n/a	n/a
8	POLR2A	chr10:1093982-1095951	GM18951	blood:	n/a	n/a
9	MAX	chr10:1093984-1095623	K562	blood:	n/a	n/a
10	CHD1	chr10:1093464-1096968	IMR90	lung:	n/a	chr10:1095411-1095421 chr10:1095080-1095087 chr10:1094729-1094739 chr10:1095408-1095418
11	POLR2A	chr10:1093402-1097928	K562	blood:	n/a	n/a
12	POLR2A	chr10:1093825-1096144	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr10:1093828-1096068	H1-neurons	neurons:	n/a	n/a
14	CTBP2	chr10:1093923-1095338	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr10:1093464-1096904	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:1093981-1096038	K562	blood:	n/a	n/a
17	POLR2A	chr10:1093594-1095997	GM19099	blood:	n/a	n/a
18	BACH1	chr10:1093937-1094012	H1-hESC	embryonic stem cell:	n/a	n/a
19	MYC	chr10:1093968-1096397	K562	blood:	n/a	n/a
20	POLR2A	chr10:1093391-1097389	Hela-S3	cervix:	n/a	n/a
21	ZNF384	chr10:1093938-1094002	K562	blood:	n/a	n/a
22	POLR2A	chr10:1093570-1094246	HepG2	liver:	n/a	n/a
23	HDAC2	chr10:1093895-1095757	MCF-7	breast:	n/a	n/a
24	POLR2A	chr10:1093834-1095948	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr10:1093874-1095978	GM19193	blood:	n/a	n/a
26	CHD1	chr10:1093690-1096143	GM12878	blood:	n/a	chr10:1095411-1095421 chr10:1095080-1095087 chr10:1094729-1094739 chr10:1095408-1095418
27	MAX	chr10:1093920-1095960	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr10:1093816-1095789	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr10:1093822-1095978	GM12878	blood:	n/a	n/a
30	SREBP1	chr10:1093576-1096422	GM12878	blood:	n/a	n/a
31	SREBP2	chr10:1093531-1095790	GM12878	blood:	n/a	n/a
32	POLR2A	chr10:1093940-1095886	K562	blood:	n/a	n/a
33	MYC	chr10:1093947-1095856	K562	blood:	n/a	n/a
34	SIN3A	chr10:1093563-1096883	H1-hESC	embryonic stem cell:	n/a	chr10:1094759-1094770
35	POLR2A	chr10:1093515-1097127	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr10:1093877-1096079	SK-N-MC	brain:	n/a	n/a
37	MXI1	chr10:1093541-1097006	SK-N-SH	brain:	n/a	n/a
38	RFX5	chr10:1093523-1095892	SK-N-SH	brain:	n/a	chr10:1095170-1095179
39	POLR2A	chr10:1093593-1096958	MCF10A-Er-Src	breast:	n/a	n/a
40	POLR2A	chr10:1093789-1095839	H1-neurons	neurons:	n/a	n/a
41	MXI1	chr10:1093957-1095612	K562	blood:	n/a	n/a
42	POLR2A	chr10:1093969-1096481	K562	blood:	n/a	n/a
43	TBP	chr10:1093856-1095764	GM12878	blood:	n/a	n/a
44	WRNIP1	chr10:1093878-1094637	GM12878	blood:	n/a	n/a
45	POLR2A	chr10:1093383-1096642	PBDE	blood:	n/a	n/a
46	CHD1	chr10:1093914-1094179	H1-hESC	embryonic stem cell:	n/a	n/a
47	TAF1	chr10:1093826-1094137	GM12878	blood:	n/a	n/a
48	SIN3AK20	chr10:1093929-1095804	MCF-7	breast:	n/a	n/a
49	POLR2A	chr10:1093801-1096147	GM12878	blood:	n/a	n/a
50	UBTF	chr10:1093749-1095682	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1093376..1095260-chr10:1119342..1122305,3	MCF-7	breast:
2	chr10:1090197..1098635-chr10:1098667..1108160,39	K562	blood:
3	chr10:862621..864941-chr10:1093601..1095368,2	K562	blood:
4	chr10:1093530..1095103-chr10:3109700..3112335,2	K562	blood:
5	chr10:1086551..1092852-chr10:1093358..1097808,14	MCF-7	breast:
6	chr10:975330..979257-chr10:1093215..1097529,5	K562	blood:
7	chr10:976200..979208-chr10:1093606..1097726,5	MCF-7	breast:
8	chr10:975330..979545-chr10:1093428..1097529,6	K562	blood:
9	chr10:976647..980794-chr10:1093154..1097319,8	MCF-7	breast:
10	chr10:1034471..1036574-chr10:1093266..1095946,3	K562	blood:
11	chr10:1033990..1039615-chr10:1093691..1098446,7	MCF-7	breast:
12	chr10:1032470..1034485-chr10:1092422..1096343,5	MCF-7	breast:

No data

Variant related genes	Relation type
WDR37	TF binding region
ENSG00000107929	Chromatin interaction
ENSG00000067057	Chromatin interaction
ENSG00000047056	Chromatin interaction
ENSG00000205740	Chromatin interaction
ENSG00000229869	Chromatin interaction
ENSG00000107937	Chromatin interaction
ENSG00000238924	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10508205	0.87[EUR][1000 genomes]
rs11250229	0.89[EUR][1000 genomes]
rs11250238	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1135416	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11592211	0.89[EUR][1000 genomes]
rs3793778	0.89[EUR][1000 genomes]
rs4880758	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7080072	0.86[ASN][1000 genomes]
rs7093383	0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv540386	chr10:224406-1197416	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv1054659	chr10:611444-1133578	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	43 gene(s)	inside rSNPs	diseases
3	nsv466697	chr10:734229-1129527	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv549765	chr10:734229-1129527	Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription 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	39 gene(s)	inside rSNPs	diseases
5	nsv530116	chr10:776548-1401075	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv1052540	chr10:887562-1300134	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv540407	chr10:887562-1300134	Weak transcription Enhancers Active TSS Strong transcription Flanking 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
8	nsv533861	chr10:945438-1382068	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	nsv530117	chr10:945438-1729634	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
10	nsv540408	chr10:955835-1260680	Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	nsv817532	chr10:964660-1885945	Bivalent/Poised TSS Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
12	nsv1050577	chr10:986723-1277854	Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv540409	chr10:986723-1277854	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
14	nsv949405	chr10:1010464-1376105	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
15	nsv1048254	chr10:1016006-1146595	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
16	nsv1040178	chr10:1024910-1126104	Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	nsv540410	chr10:1024910-1126104	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	nsv894722	chr10:1058837-1274538	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking 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
19	nsv1046220	chr10:1064024-1188998	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
20	nsv894723	chr10:1073684-1259485	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	24 gene(s)	inside rSNPs	diseases
21	nsv5532	chr10:1079499-1101700	Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
22	nsv894724	chr10:1084942-1116294	Flanking Active TSS Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
23	esv3497616	chr10:1091673-1096308	Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
24	esv3497617	chr10:1091673-1096308	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
25	esv3370459	chr10:1091802-1094475	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
26	esv3452775	chr10:1092302-1094050	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
27	esv3452786	chr10:1092302-1094050	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
28	nsv512136	chr10:1092349-1095373	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	18 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	chr10:1035000-1094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:1082600-1094000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr10:1092400-1094000	Weak transcription	Small Intestine	intestine
4	chr10:1093400-1094000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
5	chr10:1093400-1094000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:1093400-1094000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr10:1093400-1094000	Flanking Active TSS	Colonic Mucosa	Colon
8	chr10:1093400-1094000	Enhancers	Spleen	Spleen
9	chr10:1093400-1094200	Flanking Active TSS	Brain Anterior Caudate	brain
10	chr10:1093400-1094200	Flanking Active TSS	NH-A	brain
11	chr10:1093400-1094400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:1093400-1094400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr10:1093400-1094400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr10:1093400-1094400	Flanking Active TSS	Primary B cells from peripheral blood	blood
15	chr10:1093400-1094400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr10:1093400-1094400	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr10:1093400-1094400	Flanking Active TSS	Liver	Liver
18	chr10:1093400-1094400	Flanking Active TSS	Brain Cingulate Gyrus	brain
19	chr10:1093400-1094400	Flanking Active TSS	Lung	lung
20	chr10:1093400-1094400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr10:1093400-1094400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
22	chr10:1093400-1094400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr10:1093400-1094600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr10:1093400-1094600	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr10:1093400-1094600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr10:1093400-1095800	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr10:1093400-1096200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr10:1093400-1096200	Active TSS	Muscle Satellite Cultured Cells	--
29	chr10:1093400-1096200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:1093400-1096200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr10:1093400-1096200	Active TSS	Fetal Brain Female	brain
32	chr10:1093400-1096200	Active TSS	Psoas Muscle	Psoas
33	chr10:1093400-1096200	Active TSS	Hela-S3	cervix
34	chr10:1093400-1096600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:1093400-1096600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:1093400-1096600	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr10:1093400-1096600	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr10:1093400-1096600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:1093400-1096600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr10:1093400-1096600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr10:1093400-1096600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr10:1093400-1096600	Active TSS	GM12878-XiMat	blood
43	chr10:1093400-1096600	Active TSS	HSMMtube	muscle
44	chr10:1093400-1096600	Active TSS	NHLF	lung
45	chr10:1093400-1096800	Active TSS	H9 Cell Line	embryonic stem cell
46	chr10:1093400-1096800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr10:1093400-1096800	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr10:1093400-1097000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr10:1093600-1094000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
50	chr10:1093600-1094000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell

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