Variant report

Variant	rs11812460
Chromosome Location	chr10:94832128-94832129
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HA-E2F1	chr10:94831645-94832399	MCF-7	breast:	n/a	n/a
2	SUZ12	chr10:94831576-94835260	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr10:94832080-94832230	Caco-2	colon:	n/a	n/a
4	NR2F2	chr10:94831445-94832251	HepG2	liver:	n/a	n/a
5	POLR2A	chr10:94832032-94832394	H1-neurons	neurons:	n/a	n/a
6	BRCA1	chr10:94831911-94832201	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr10:94831465-94832243	K562	blood:	n/a	n/a
8	POLR2A	chr10:94831581-94832381	ECC-1	luminal epithelium:	n/a	n/a
9	MAX	chr10:94831471-94832518	ECC-1	luminal epithelium:	n/a	n/a
10	MAZ	chr10:94830848-94832307	K562	blood:	n/a	chr10:94831445-94831455
11	MAX	chr10:94831382-94832483	ECC-1	luminal epithelium:	n/a	chr10:94831445-94831455
12	POLR2A	chr10:94830881-94833922	K562	blood:	n/a	n/a
13	ZBTB7A	chr10:94831450-94832282	ECC-1	luminal epithelium:	n/a	chr10:94831769-94831776
14	MAX	chr10:94831454-94832516	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:94832078-94832159	LNCaP	prostate:	n/a	n/a
16	SUZ12	chr10:94831542-94836175	NT2-D1	testis:	n/a	n/a
17	POLR2A	chr10:94831927-94832191	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr10:94831457-94833161	K562	blood:	n/a	n/a
19	HEY1	chr10:94831464-94832220	K562	blood:	n/a	n/a
20	CHD2	chr10:94831623-94832243	H1-hESC	embryonic stem cell:	n/a	n/a
21	TCF12	chr10:94831495-94832467	ECC-1	luminal epithelium:	n/a	n/a
22	EP300	chr10:94831437-94832412	ECC-1	luminal epithelium:	n/a	chr10:94831943-94831956
23	MAX	chr10:94832090-94832316	K562	blood:	n/a	n/a
24	NFIC	chr10:94831443-94832217	ECC-1	luminal epithelium:	n/a	n/a
25	HMGN3	chr10:94831503-94832304	K562	blood:	n/a	n/a
26	MYC	chr10:94830878-94832134	K562	blood:	n/a	chr10:94831445-94831455
27	POLR2A	chr10:94831408-94832768	K562	blood:	n/a	n/a
28	TCF12	chr10:94831467-94832450	ECC-1	luminal epithelium:	n/a	n/a
29	SIN3AK20	chr10:94831382-94832201	MCF-7	breast:	n/a	n/a
30	CHD2	chr10:94831655-94832241	HepG2	liver:	n/a	n/a
31	CHD2	chr10:94831520-94832363	K562	blood:	n/a	n/a
32	POLR2A	chr10:94831505-94832435	H1-neurons	neurons:	n/a	n/a
33	NR2F2	chr10:94831322-94832434	MCF-7	breast:	n/a	n/a
34	SIN3A	chr10:94831584-94832776	H1-hESC	embryonic stem cell:	n/a	chr10:94832542-94832551
35	CTBP2	chr10:94831565-94832359	H1-hESC	embryonic stem cell:	n/a	n/a
36	HEY1	chr10:94831622-94832345	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:94832106-94832156	GM06990	blood:	n/a
2	chr10:94832106-94832156	Caco-2	colon:	n/a
3	chr10:94832106-94832156	MCF-7	breast:	n/a
4	chr10:94832106-94832156	HRCEpiC	kidney:	n/a
5	chr10:94832106-94832156	SK-N-SH	brain:	n/a
6	chr10:94832106-94832156	NHDF-neo	bronchial:	n/a
7	chr10:94832106-94832156	HPAEpiC	pulmonary alveolar:	n/a
8	chr10:94832106-94832156	ProgFib	skin:	n/a
9	chr10:94832106-94832156	NH-A	brain:	n/a
10	chr10:94832106-94832156	HCM	heart:	n/a
11	chr10:94832106-94832156	HEEpiC	esophagus:	n/a
12	chr10:94832106-94832156	GM12892	blood:	n/a
13	chr10:94832106-94832156	HCT-116	colon:	n/a
14	chr10:94832106-94832156	BE2_C	brain:	n/a
15	chr10:94832106-94832156	AG04449	skin:	fetal
16	chr10:94832106-94832156	AoSMC	blood vessel:	n/a
17	chr10:94832106-94832156	CMK	blood:	n/a
18	chr10:94832106-94832156	MCF10A-Er-Src	breast:	n/a
19	chr10:94832106-94832156	HUVEC	blood vessel:	n/a
20	chr10:94832106-94832156	HIPEpiC	eye:	n/a
21	chr10:94832106-94832156	GM12891	blood:	n/a
22	chr10:94832106-94832156	PrEC	prostate:	n/a
23	chr10:94832106-94832156	IMR90	lung:	fetal
24	chr10:94832106-94832156	HEK293	kidney:	embryo
25	chr10:94832106-94832156	HRPEpiC	eye:	n/a
26	chr10:94832106-94832156	RPTEC	kidney:	n/a
27	chr10:94832106-94832156	AG10803	skin:	n/a
28	chr10:94832106-94832156	NHBE	bronchial:	n/a
29	chr10:94832106-94832156	AG09319	gingival:	n/a
30	chr10:94832106-94832156	U87	brain:	n/a
31	chr10:94832106-94832156	BJ	skin:	n/a
32	chr10:94832106-94832156	HNPCEpiC	eye:	n/a
33	chr10:94832106-94832156	SAEC	small airway:	n/a
34	chr10:94832106-94832156	HepG2	liver:	n/a
35	chr10:94832106-94832156	HRE	kidney:	n/a
36	chr10:94832106-94832156	HCF	heart:	n/a
37	chr10:94832106-94832156	GM12878	blood:	n/a
38	chr10:94832106-94832156	HCPEpiC	choroid plexus:	n/a
39	chr10:94832106-94832156	HMEC	breast:	n/a
40	chr10:94832106-94832156	ECC-1	luminal epithelium:	n/a
41	chr10:94832106-94832156	K562	blood:	n/a
42	chr10:94832106-94832156	SK-N-SH_RA	brain:	n/a
43	chr10:94832106-94832156	AG09309	skin:	n/a
44	chr10:94832106-94832156	LNCaP	prostate:	n/a
45	chr10:94832106-94832156	ovcar-3	ovarian:	n/a
46	chr10:94832106-94832156	Hela-S3	cervix:	n/a
47	chr10:94832106-94832156	Hepatocyte	liver:	n/a
48	chr10:94832106-94832156	A549	lung:	n/a
49	chr10:94832106-94832156	H1-hESC	embryonic stem cell:	embryo
50	chr10:94832106-94832156	NT2-D1	testis:	n/a

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:94820481..94822581-chr10:94829729..94832249,3	K562	blood:
2	chr10:94730886..94732779-chr10:94830239..94832619,2	K562	blood:
3	chr10:94827502..94829121-chr10:94830877..94833097,2	MCF-7	breast:
4	chr10:94588398..94591090-chr10:94830057..94832892,2	K562	blood:
5	chr10:94830658..94833124-chr10:94835303..94840164,8	K562	blood:

No data

Variant related genes	Relation type
CYP26A1	TF binding region
CYP26A1	CpG island
ENSG00000187553	Chromatin interaction
ENSG00000138190	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10748589	0.87[ASN][1000 genomes]
rs10786060	0.82[GIH][hapmap]
rs10786065	0.83[ASN][1000 genomes]
rs10786066	0.87[ASN][1000 genomes]
rs10786067	0.87[ASN][1000 genomes]
rs10882123	0.82[GIH][hapmap]
rs10882125	0.82[GIH][hapmap]
rs10882129	0.82[GIH][hapmap]
rs12256889	0.81[CEU][hapmap];0.84[CHB][hapmap];0.83[CHD][hapmap];0.98[GIH][hapmap];0.82[JPT][hapmap];0.81[MEX][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs1409385	0.83[GIH][hapmap]
rs1409386	0.83[GIH][hapmap]
rs3736936	0.83[ASN][1000 genomes]
rs4411227	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4568938	0.87[ASN][1000 genomes]
rs4919594	0.84[CHB][hapmap];0.91[JPT][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4933753	0.82[GIH][hapmap]
rs7068232	0.82[GIH][hapmap]
rs7068500	0.87[ASN][1000 genomes]
rs7096857	0.87[ASN][1000 genomes]
rs7895716	0.87[ASN][1000 genomes]
rs9633694	0.82[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1802015	chr10:94811983-94839960	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv895899	chr10:94818382-94836435	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94831000-94833200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
2	chr10:94831200-94833200	Bivalent Enhancer	Brain Germinal Matrix	brain
3	chr10:94831200-94834200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr10:94831400-94832200	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
5	chr10:94831400-94832400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr10:94831400-94832400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
7	chr10:94831400-94832600	Bivalent/Poised TSS	HepG2	liver
8	chr10:94831400-94833000	Active TSS	Right Atrium	heart
9	chr10:94831400-94833200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
10	chr10:94831400-94833400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr10:94831400-94833800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr10:94831400-94835400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
13	chr10:94831600-94832200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr10:94831600-94832200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr10:94831600-94832200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr10:94831600-94832200	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
17	chr10:94831600-94832200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:94831600-94832200	Bivalent Enhancer	Esophagus	oesophagus
19	chr10:94831600-94832200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
20	chr10:94831600-94832200	Active TSS	Pancreas	Pancrea
21	chr10:94831600-94832200	Flanking Bivalent TSS/Enh	NHLF	lung
22	chr10:94831600-94832400	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr10:94831600-94832400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
26	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
30	chr10:94831600-94832400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
31	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
32	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
34	chr10:94831600-94832400	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
35	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Placenta	Placenta
37	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
38	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Left Ventricle	heart
39	chr10:94831600-94832400	Flanking Active TSS	Ovary	ovary
40	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
41	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	GM12878-XiMat	blood
42	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
43	chr10:94831600-94832400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
44	chr10:94831600-94832600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:94831600-94832600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr10:94831600-94832600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
47	chr10:94831600-94832600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
48	chr10:94831600-94832600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
49	chr10:94831600-94832600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
50	chr10:94831600-94832600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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