Variant report

Variant	rs545406223
Chromosome Location	chr10:91295380-91295381
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	YY1	chr10:91295372-91295783	H1-hESC	embryonic stem cell:	n/a	chr10:91295542-91295556 chr10:91295583-91295597 chr10:91295418-91295432 chr10:91295419-91295433 chr10:91295424-91295433 chr10:91295601-91295615 chr10:91295583-91295592 chr10:91295422-91295436
2	POLR2A	chr10:91294949-91295991	H1-hESC	embryonic stem cell:	n/a	n/a
3	E2F6	chr10:91294689-91295989	H1-hESC	embryonic stem cell:	n/a	chr10:91295386-91295395 chr10:91295424-91295433
4	E2F6	chr10:91294820-91295955	H1-hESC	embryonic stem cell:	n/a	chr10:91295386-91295395 chr10:91295424-91295433
5	CTCF	chr10:91295340-91295490	GM12875	blood:	n/a	chr10:91295409-91295422
6	CTCF	chr10:91295360-91295510	HBMEC	blood vessel:	n/a	chr10:91295409-91295422
7	E2F6	chr10:91294894-91295390	A549	lung:	n/a	n/a
8	SIN3A	chr10:91294832-91295789	H1-hESC	embryonic stem cell:	n/a	chr10:91295145-91295154 chr10:91295345-91295356 chr10:91295695-91295708 chr10:91295138-91295151
9	CTCF	chr10:91295380-91295530	GM12868	blood:	n/a	chr10:91295409-91295422
10	MAX	chr10:91294829-91295606	H1-hESC	embryonic stem cell:	n/a	chr10:91295016-91295026 chr10:91295015-91295026 chr10:91295015-91295026 chr10:91295015-91295026 chr10:91295425-91295435
11	CTCF	chr10:91295320-91295470	AoAF	blood vessel:	n/a	chr10:91295409-91295422
12	CTCF	chr10:91295360-91295510	AG04449	skin:	n/a	chr10:91295409-91295422
13	CTCF	chr10:91295300-91295450	HCM	heart:	n/a	chr10:91295409-91295422
14	TAF7	chr10:91295126-91295669	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr10:91295079-91295878	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr10:91295380-91295530	HEK293	kidney:	n/a	chr10:91295409-91295422
17	TAF1	chr10:91295111-91295402	H1-hESC	embryonic stem cell:	n/a	n/a
18	CTCF	chr10:91295360-91295510	HRPEpiC	eye:	n/a	chr10:91295409-91295422
19	CTCF	chr10:91295300-91295450	GM12871	blood:	n/a	chr10:91295409-91295422
20	CTCF	chr10:91295380-91295530	SK-N-SH_RA	brain:	n/a	chr10:91295409-91295422
21	CTCF	chr10:91295360-91295510	AoAF	blood vessel:	n/a	chr10:91295409-91295422
22	MAX	chr10:91294772-91295386	H1-hESC	embryonic stem cell:	n/a	chr10:91295016-91295026 chr10:91295015-91295026 chr10:91295015-91295026 chr10:91295015-91295026
23	TBP	chr10:91295039-91295859	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:91295338-91295388	HepG2	liver:	n/a
2	chr10:91295346-91295396	HCT-116	colon:	n/a
3	chr10:91295338-91295388	U87	brain:	n/a
4	chr10:91295338-91295388	SK-N-SH	brain:	n/a
5	chr10:91295338-91295388	GM19239	blood:	n/a
6	chr10:91295338-91295388	HCT-116	colon:	n/a
7	chr10:91295338-91295388	HRE	kidney:	n/a
8	chr10:91295358-91295408	HCF	heart:	n/a
9	chr10:91295338-91295388	LNCaP	prostate:	n/a
10	chr10:91295338-91295388	NHDF-neo	bronchial:	n/a
11	chr10:91295358-91295408	SKMC	muscle:	n/a
12	chr10:91295346-91295396	T-47D	breast:	n/a
13	chr10:91295346-91295396	LNCaP	prostate:	n/a
14	chr10:91295338-91295388	HMEC	breast:	n/a
15	chr10:91295358-91295408	ECC-1	luminal epithelium:	n/a
16	chr10:91295358-91295408	HEEpiC	esophagus:	n/a
17	chr10:91295346-91295396	IMR90	lung:	fetal
18	chr10:91295338-91295388	MCF10A-Er-Src	breast:	n/a
19	chr10:91295346-91295396	MCF-7	breast:	n/a
20	chr10:91295346-91295396	PrEC	prostate:	n/a
21	chr10:91295358-91295408	HEK293	kidney:	embryo
22	chr10:91295346-91295396	PANC-1	pancreas:	n/a
23	chr10:91295346-91295396	HCM	heart:	n/a
24	chr10:91295346-91295396	BE2_C	brain:	n/a
25	chr10:91295358-91295408	AG09319	gingival:	n/a
26	chr10:91295338-91295388	BJ	skin:	n/a
27	chr10:91295338-91295388	Hepatocyte	liver:	n/a
28	chr10:91295358-91295408	HIPEpiC	eye:	n/a
29	chr10:91295346-91295396	SAEC	small airway:	n/a
30	chr10:91295338-91295388	HCM	heart:	n/a
31	chr10:91295346-91295396	GM06990	blood:	n/a
32	chr10:91295338-91295388	IMR90	lung:	fetal
33	chr10:91295338-91295388	AG09309	skin:	n/a
34	chr10:91295346-91295396	GM12891	blood:	n/a
35	chr10:91295338-91295388	ECC-1	luminal epithelium:	n/a
36	chr10:91295358-91295408	NH-A	brain:	n/a
37	chr10:91295346-91295396	HIPEpiC	eye:	n/a
38	chr10:91295338-91295388	HNPCEpiC	eye:	n/a
39	chr10:91295346-91295396	HNPCEpiC	eye:	n/a
40	chr10:91295346-91295396	HCF	heart:	n/a
41	chr10:91295358-91295408	HMEC	breast:	n/a
42	chr10:91295358-91295408	HCT-116	colon:	n/a
43	chr10:91295358-91295408	BJ	skin:	n/a
44	chr10:91295346-91295396	HUVEC	blood vessel:	n/a
45	chr10:91295338-91295388	GM06990	blood:	n/a
46	chr10:91295338-91295388	SAEC	small airway:	n/a
47	chr10:91295358-91295408	NHDF-neo	bronchial:	n/a
48	chr10:91295358-91295408	GM19239	blood:	n/a
49	chr10:91295338-91295388	HRPEpiC	eye:	n/a
50	chr10:91295338-91295388	HL-60	blood:	n/a

Variant related genes	Relation type
SLC16A12	TF binding region
SLC16A12	CpG island

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription 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 miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription 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 miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv932413	chr10:91294861-91300246	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91293200-91296000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr10:91293800-91295400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
3	chr10:91293800-91295800	Active TSS	H9 Cell Line	embryonic stem cell
4	chr10:91293800-91295800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
5	chr10:91293800-91296000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:91293800-91296200	Active TSS	Pancreas	Pancrea
7	chr10:91294000-91296000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr10:91294000-91296000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr10:91294000-91296000	Weak transcription	Fetal Heart	heart
10	chr10:91294000-91296000	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr10:91294000-91296200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr10:91294200-91295800	Active TSS	Left Ventricle	heart
13	chr10:91294200-91295800	Bivalent/Poised TSS	Psoas Muscle	Psoas
14	chr10:91294200-91295800	Active TSS	Right Ventricle	heart
15	chr10:91294400-91295400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
16	chr10:91294400-91295400	Flanking Bivalent TSS/Enh	Placenta	Placenta
17	chr10:91294400-91295800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr10:91294400-91295800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr10:91294400-91295800	Bivalent/Poised TSS	A549	lung
20	chr10:91294400-91295800	Bivalent/Poised TSS	NH-A	brain
21	chr10:91294600-91295600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
22	chr10:91294600-91295800	Bivalent Enhancer	Fetal Thymus	thymus
23	chr10:91294600-91296000	Bivalent/Poised TSS	Fetal Brain Female	brain
24	chr10:91294600-91296000	Active TSS	Right Atrium	heart
25	chr10:91294800-91295400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:91294800-91295400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
27	chr10:91294800-91295400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
28	chr10:91294800-91295400	Flanking Bivalent TSS/Enh	HMEC	breast
29	chr10:91294800-91295600	Bivalent Enhancer	Primary B cells from cord blood	blood
30	chr10:91294800-91295600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
31	chr10:91294800-91295800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
32	chr10:91294800-91295800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr10:91294800-91295800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr10:91294800-91295800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr10:91294800-91295800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:91294800-91295800	Active TSS	Aorta	Aorta
37	chr10:91294800-91295800	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
38	chr10:91294800-91295800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
39	chr10:91294800-91295800	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr10:91294800-91295800	Bivalent/Poised TSS	Thymus	Thymus
41	chr10:91294800-91295800	Active TSS	HSMM	muscle
42	chr10:91294800-91296000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr10:91294800-91296000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr10:91294800-91296000	Bivalent/Poised TSS	HepG2	liver
45	chr10:91294800-91296200	Active TSS	HSMMtube	muscle
46	chr10:91295000-91295400	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:91295000-91295400	Flanking Active TSS	Lung	lung
48	chr10:91295000-91295400	Flanking Active TSS	Ovary	ovary
49	chr10:91295000-91295400	Bivalent Enhancer	Small Intestine	intestine
50	chr10:91295000-91295400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach

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