Variant report

Variant	rs12762898
Chromosome Location	chr10:92617465-92617466
allele	A/C
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	MAX	chr10:92617382-92617630	K562	blood:	n/a	chr10:92617598-92617608
2	PAX5	chr10:92617252-92617699	GM12891	blood:	n/a	n/a
3	CTCF	chr10:92617440-92617590	AG10803	skin:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
4	RAD21	chr10:92617411-92617664	HepG2	liver:	n/a	n/a
5	CTCF	chr10:92617435-92617670	GM10266	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
6	MAX	chr10:92616680-92617731	H1-hESC	embryonic stem cell:	n/a	chr10:92617598-92617608
7	FOXP2	chr10:92617201-92617798	PFSK-1	brain:	n/a	n/a
8	CTCF	chr10:92617402-92617733	HepG2	liver:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
9	CTCF	chr10:92617425-92617688	Lung_OC	lung:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
10	CTCF	chr10:92617318-92617763	H1-hESC	embryonic stem cell:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
11	MAX	chr10:92617415-92617615	GM12878	blood:	n/a	chr10:92617598-92617608
12	CTCF	chr10:92617388-92617709	MCF-7	breast:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
13	MAX	chr10:92617252-92617804	K562	blood:	n/a	chr10:92617598-92617608
14	CTCF	chr10:92617440-92617590	HAc	cerebellar:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
15	TAF7	chr10:92617334-92617805	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr10:92617440-92617590	NHLF	lung:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
17	CTCF	chr10:92617396-92617799	Fibrobl	skin:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
18	CTCF	chr10:92617460-92617610	Hela-S3	cervix:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
19	CTCF	chr10:92617354-92617617	A549	lung:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
20	FOS	chr10:92617446-92617781	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr10:92617344-92617796	K562	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
22	CTCF	chr10:92617460-92617610	GM12874	blood:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
23	PAX5	chr10:92617350-92617676	GM12878	blood:	n/a	n/a
24	TBP	chr10:92617460-92617654	K562	blood:	n/a	n/a
25	ZBTB7A	chr10:92617433-92617729	K562	blood:	n/a	n/a
26	HMGN3	chr10:92617364-92618091	K562	blood:	n/a	n/a
27	ZBTB7A	chr10:92617412-92617664	K562	blood:	n/a	n/a
28	CTCFL	chr10:92617399-92617625	K562	blood:	n/a	n/a
29	YY1	chr10:92617305-92617689	H1-hESC	embryonic stem cell:	n/a	chr10:92617540-92617554 chr10:92617619-92617630
30	MYC	chr10:92617335-92617625	K562	blood:	n/a	chr10:92617598-92617608
31	YY1	chr10:92617424-92617628	K562	blood:	n/a	chr10:92617540-92617554
32	ZNF143	chr10:92617359-92617710	H1-hESC	embryonic stem cell:	n/a	chr10:92617583-92617601
33	CTCF	chr10:92617440-92617590	GM12868	blood:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
34	CTCF	chr10:92617460-92617610	AoAF	blood vessel:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
35	CTCF	chr10:92617440-92617590	BJ	skin:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
36	CTCF	chr10:92617460-92617610	HAc	cerebellar:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
37	CTCF	chr10:92617440-92617590	HVMF	connective:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
38	CTCF	chr10:92617460-92617610	HFF-Myc	foreskin:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
39	CTCF	chr10:92617417-92617720	MCF-7	breast:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
40	CTCF	chr10:92617155-92618170	SK-N-SH	brain:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
41	SIN3A	chr10:92615640-92618428	H1-hESC	embryonic stem cell:	n/a	chr10:92617442-92617455 chr10:92617619-92617630
42	RCOR1	chr10:92617385-92618088	K562	blood:	n/a	n/a
43	ZNF143	chr10:92617408-92617699	K562	blood:	n/a	chr10:92617583-92617601
44	CTCF	chr10:92617397-92617730	GM19238	blood:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
45	CTCF	chr10:92617440-92617590	GM12864	blood:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565
46	CTCF	chr10:92617434-92617649	LNCaP	prostate:	n/a	chr10:92617551-92617564 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
47	CTCF	chr10:92617431-92617675	LNCaP	prostate:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
48	CTCF	chr10:92617319-92617787	H1-hESC	embryonic stem cell:	n/a	chr10:92617551-92617564 chr10:92617645-92617658 chr10:92617548-92617566 chr10:92617549-92617565 chr10:92617601-92617614
49	MAX	chr10:92617225-92617824	ECC-1	luminal epithelium:	n/a	chr10:92617598-92617608
50	SIN3AK20	chr10:92616671-92617746	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:92617429-92617479	HepG2	liver:	n/a
2	chr10:92617429-92617479	LNCaP	prostate:	n/a
3	chr10:92617429-92617479	GM19239	blood:	n/a
4	chr10:92617429-92617479	K562	blood:	n/a
5	chr10:92617429-92617479	GM12892	blood:	n/a
6	chr10:92617429-92617479	HIPEpiC	eye:	n/a
7	chr10:92617429-92617479	HEK293	kidney:	embryo
8	chr10:92617429-92617479	GM12891	blood:	n/a
9	chr10:92617429-92617479	AG04450	lung:	fetal
10	chr10:92617429-92617479	AG09319	gingival:	n/a
11	chr10:92617429-92617479	SK-N-SH_RA	brain:	n/a
12	chr10:92617429-92617479	HMEC	breast:	n/a
13	chr10:92617429-92617479	GM12878	blood:	n/a
14	chr10:92617429-92617479	HRCEpiC	kidney:	n/a
15	chr10:92617429-92617479	HCT-116	colon:	n/a
16	chr10:92617429-92617479	HNPCEpiC	eye:	n/a
17	chr10:92617429-92617479	T-47D	breast:	n/a
18	chr10:92617429-92617479	PrEC	prostate:	n/a
19	chr10:92617429-92617479	MCF-7	breast:	n/a
20	chr10:92617429-92617479	HAEpiC	amniotic membrane:	n/a
21	chr10:92617429-92617479	NHBE	bronchial:	n/a
22	chr10:92617429-92617479	BJ	skin:	n/a
23	chr10:92617429-92617479	CMK	blood:	n/a
24	chr10:92617429-92617479	HEEpiC	esophagus:	n/a
25	chr10:92617429-92617479	H1-hESC	embryonic stem cell:	embryo
26	chr10:92617429-92617479	AG04449	skin:	fetal
27	chr10:92617429-92617479	SK-N-SH	brain:	n/a
28	chr10:92617429-92617479	HRE	kidney:	n/a
29	chr10:92617429-92617479	RPTEC	kidney:	n/a
30	chr10:92617429-92617479	HL-60	blood:	n/a
31	chr10:92617429-92617479	SK-N-MC	brain:	n/a
32	chr10:92617429-92617479	Jurkat	blood:	n/a
33	chr10:92617429-92617479	BE2_C	brain:	n/a
34	chr10:92617429-92617479	ovcar-3	ovarian:	n/a
35	chr10:92617429-92617479	ECC-1	luminal epithelium:	n/a
36	chr10:92617429-92617479	SAEC	small airway:	n/a
37	chr10:92617429-92617479	U87	brain:	n/a
38	chr10:92617429-92617479	NB4	blood:	n/a
39	chr10:92617429-92617479	AoSMC	blood vessel:	n/a
40	chr10:92617429-92617479	HCM	heart:	n/a
41	chr10:92617429-92617479	ProgFib	skin:	n/a
42	chr10:92617429-92617479	Hela-S3	cervix:	n/a
43	chr10:92617429-92617479	AG10803	skin:	n/a
44	chr10:92617429-92617479	Hepatocyte	liver:	n/a
45	chr10:92617429-92617479	IMR90	lung:	fetal
46	chr10:92617429-92617479	GM06990	blood:	n/a
47	chr10:92617429-92617479	PANC-1	pancreas:	n/a
48	chr10:92617429-92617479	HPAEpiC	pulmonary alveolar:	n/a
49	chr10:92617429-92617479	NT2-D1	testis:	n/a
50	chr10:92617429-92617479	AG09309	skin:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:92617261..92617781-chr12:1100112..1100745,2	HCT-116	colon:
2	chr10:92617446..92619942-chr10:92629114..92632072,2	K562	blood:

Variant related genes	Relation type
HTR7	TF binding region
HTR7	CpG island
ENSG00000250132	Chromatin interaction
ENSG00000082805	Chromatin interaction
ENSG00000148688	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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	nsv831945	chr10:92590576-92793582	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv20899	chr10:92617266-92618168	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a
3	nsv551910	chr10:92617295-92618030	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
4	nsv551911	chr10:92617295-92618082	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a
5	esv1815232	chr10:92617295-92618616	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	esv1823335	chr10:92617295-92618616	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	esv1840527	chr10:92617295-92618616	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv551912	chr10:92617465-92618082	Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:92614400-92618600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr10:92614400-92618800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr10:92614400-92619000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:92614800-92618600	Bivalent/Poised TSS	Fetal Brain Female	brain
5	chr10:92614800-92619200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
6	chr10:92615000-92618200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr10:92615200-92618200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr10:92615400-92618600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr10:92615800-92618000	Active TSS	Osteobl	bone
10	chr10:92615800-92618400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr10:92616000-92617600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
12	chr10:92616000-92618000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr10:92616000-92618000	Active TSS	Muscle Satellite Cultured Cells	--
14	chr10:92616000-92618000	Active TSS	HMEC	breast
15	chr10:92616000-92618600	Bivalent/Poised TSS	Fetal Stomach	stomach
16	chr10:92616200-92618400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr10:92616600-92617600	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr10:92616600-92618400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr10:92616600-92618600	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
20	chr10:92616800-92617600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:92616800-92617600	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
22	chr10:92616800-92617600	Flanking Active TSS	Right Ventricle	heart
23	chr10:92616800-92617800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr10:92616800-92618000	Active TSS	NHEK	skin
25	chr10:92616800-92618400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
26	chr10:92616800-92618400	Active TSS	Aorta	Aorta
27	chr10:92616800-92618800	Active TSS	NHLF	lung
28	chr10:92617000-92617600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
29	chr10:92617000-92617600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr10:92617000-92618200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr10:92617000-92618200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
32	chr10:92617000-92618200	Flanking Bivalent TSS/Enh	Dnd41	blood
33	chr10:92617000-92618200	Active TSS	Hela-S3	cervix
34	chr10:92617000-92618200	Bivalent/Poised TSS	HepG2	liver
35	chr10:92617000-92618400	Active TSS	Brain Cingulate Gyrus	brain
36	chr10:92617000-92618400	Active TSS	Psoas Muscle	Psoas
37	chr10:92617000-92618400	Active TSS	HSMMtube	muscle
38	chr10:92617000-92618600	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr10:92617000-92618600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr10:92617200-92617600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr10:92617200-92618000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr10:92617200-92618000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr10:92617200-92618000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
44	chr10:92617200-92618000	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr10:92617200-92618000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr10:92617200-92618000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr10:92617200-92618000	Bivalent/Poised TSS	Fetal Thymus	thymus
48	chr10:92617200-92618000	Active TSS	Small Intestine	intestine
49	chr10:92617200-92618000	Active TSS	GM12878-XiMat	blood
50	chr10:92617200-92618000	Active TSS	HSMM	muscle

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