Variant report

Variant	rs563468638
Chromosome Location	chr10:94608103-94608104
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	POLR2A	chr10:94607894-94609438	K562	blood:	n/a	n/a
2	YY1	chr10:94608050-94608545	K562	blood:	n/a	chr10:94608431-94608442 chr10:94608068-94608079 chr10:94608280-94608300 chr10:94608071-94608080
3	MXI1	chr10:94607292-94609789	SK-N-SH	brain:	n/a	n/a
4	POLR2A	chr10:94607957-94608881	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr10:94607951-94609087	GM12892	blood:	n/a	n/a
6	REST	chr10:94608100-94608685	HL-60	blood:	n/a	chr10:94608635-94608648
7	EGR1	chr10:94607689-94609218	MCF-7	breast:	n/a	chr10:94608118-94608129 chr10:94608117-94608130 chr10:94608117-94608130 chr10:94608120-94608130 chr10:94608120-94608129 chr10:94608871-94608885 chr10:94608234-94608243 chr10:94608117-94608130 chr10:94608117-94608131 chr10:94608918-94608932 chr10:94608117-94608130 chr10:94608732-94608745 chr10:94608119-94608129 chr10:94608116-94608131 chr10:94608119-94608129 chr10:94608113-94608135
8	POLR2A	chr10:94607948-94609022	Hela-S3	cervix:	n/a	n/a
9	E2F6	chr10:94607978-94609101	K562	blood:	n/a	chr10:94608137-94608151 chr10:94608122-94608134 chr10:94608891-94608902
10	TCF12	chr10:94607762-94609139	ECC-1	luminal epithelium:	n/a	chr10:94608046-94608056 chr10:94608116-94608123 chr10:94608782-94608790 chr10:94608056-94608063 chr10:94608054-94608064
11	POLR2A	chr10:94607791-94609243	HL-60	blood:	n/a	n/a
12	REST	chr10:94607680-94609409	H1-neurons	neurons:	n/a	chr10:94608635-94608648 chr10:94609399-94609406
13	MXI1	chr10:94607934-94608987	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:94607916-94608988	GM15510	blood:	n/a	n/a
15	POLR2A	chr10:94607911-94609065	GM18505	blood:	n/a	n/a
16	TAF1	chr10:94607952-94609023	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr10:94608006-94608544	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr10:94607716-94609256	A549	lung:	n/a	chr10:94608427-94608436
19	POLR2A	chr10:94608006-94608610	A549	lung:	n/a	n/a
20	CHD2	chr10:94607702-94609187	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr10:94607992-94609008	MCF-7	breast:	n/a	n/a
22	POLR2A	chr10:94608048-94608766	GM12878	blood:	n/a	n/a
23	PML	chr10:94608083-94608886	GM12878	blood:	n/a	n/a
24	POLR2A	chr10:94607969-94608965	K562	blood:	n/a	n/a
25	EGR1	chr10:94607968-94608248	GM12878	blood:	n/a	chr10:94608118-94608129 chr10:94608117-94608130 chr10:94608117-94608130 chr10:94608120-94608130 chr10:94608120-94608129 chr10:94608234-94608243 chr10:94608117-94608130 chr10:94608117-94608131 chr10:94608117-94608130 chr10:94608119-94608129 chr10:94608116-94608131 chr10:94608119-94608129 chr10:94608113-94608135
26	NFIC	chr10:94607817-94608821	ECC-1	luminal epithelium:	n/a	n/a
27	YY1	chr10:94607905-94609070	GM12878	blood:	n/a	chr10:94608431-94608442 chr10:94608583-94608597 chr10:94608068-94608079 chr10:94608859-94608870 chr10:94608280-94608300 chr10:94608071-94608080 chr10:94608697-94608711
28	EGR1	chr10:94607891-94608716	K562	blood:	n/a	chr10:94608118-94608129 chr10:94608117-94608130 chr10:94608117-94608130 chr10:94608120-94608130 chr10:94608120-94608129 chr10:94608234-94608243 chr10:94608117-94608130 chr10:94608117-94608131 chr10:94608117-94608130 chr10:94608119-94608129 chr10:94608116-94608131 chr10:94608119-94608129 chr10:94608113-94608135
29	BHLHE40	chr10:94607896-94608638	GM12878	blood:	n/a	chr10:94608112-94608128 chr10:94608578-94608594
30	EGR1	chr10:94607717-94609297	HCT-116	colon:	n/a	chr10:94608118-94608129 chr10:94608117-94608130 chr10:94608117-94608130 chr10:94608120-94608130 chr10:94608120-94608129 chr10:94608871-94608885 chr10:94608234-94608243 chr10:94608117-94608130 chr10:94608117-94608131 chr10:94608918-94608932 chr10:94608117-94608130 chr10:94608732-94608745 chr10:94608119-94608129 chr10:94608116-94608131 chr10:94608119-94608129 chr10:94608113-94608135
31	POLR2A	chr10:94607904-94609211	Raji	blood:	n/a	n/a
32	POLR2A	chr10:94608031-94608665	PANC-1	pancreas:	n/a	n/a
33	TAF1	chr10:94607840-94609032	H1-neurons	neurons:	n/a	n/a
34	SIN3AK20	chr10:94607808-94608968	PANC-1	pancreas:	n/a	n/a
35	E2F4	chr10:94607321-94608436	MCF10A-Er-Src	breast:	n/a	chr10:94608137-94608151 chr10:94608122-94608134 chr10:94608123-94608134
36	RUNX3	chr10:94607808-94608147	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:94608060-94608529	K562	blood:	n/a	n/a
38	CEBPB	chr10:94607950-94608610	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr10:94607769-94609066	GM12892	blood:	n/a	n/a
40	YY1	chr10:94607875-94609075	SK-N-SH	brain:	n/a	chr10:94608431-94608442 chr10:94608583-94608597 chr10:94608068-94608079 chr10:94608859-94608870 chr10:94608280-94608300 chr10:94608071-94608080 chr10:94608697-94608711
41	POLR2A	chr10:94607895-94608998	GM18951	blood:	n/a	n/a
42	YY1	chr10:94608041-94608970	ECC-1	luminal epithelium:	n/a	chr10:94608431-94608442 chr10:94608583-94608597 chr10:94608068-94608079 chr10:94608859-94608870 chr10:94608280-94608300 chr10:94608071-94608080 chr10:94608697-94608711
43	RCOR1	chr10:94606771-94609165	Hela-S3	cervix:	n/a	n/a
44	TAF1	chr10:94607949-94608733	HepG2	liver:	n/a	n/a
45	POLR2A	chr10:94607910-94609069	GM19099	blood:	n/a	n/a
46	MYC	chr10:94607913-94608411	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr10:94608083-94608524	GM12892	blood:	n/a	n/a
48	EBF1	chr10:94607835-94608270	GM12878	blood:	n/a	n/a
49	EGR1	chr10:94607751-94609306	ECC-1	luminal epithelium:	n/a	chr10:94608118-94608129 chr10:94608117-94608130 chr10:94608117-94608130 chr10:94608120-94608130 chr10:94608120-94608129 chr10:94608871-94608885 chr10:94608234-94608243 chr10:94608117-94608130 chr10:94608117-94608131 chr10:94608918-94608932 chr10:94608117-94608130 chr10:94608732-94608745 chr10:94608119-94608129 chr10:94608116-94608131 chr10:94608119-94608129 chr10:94608113-94608135
50	UBTF	chr10:94607975-94609135	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:94608070-94608120	SK-N-SH	brain:	n/a
2	chr10:94608070-94608120	HCM	heart:	n/a
3	chr10:94608070-94608120	Hepatocyte	liver:	n/a
4	chr10:94608077-94608127	AG09309	skin:	n/a
5	chr10:94608077-94608127	NHBE	bronchial:	n/a
6	chr10:94608077-94608127	PFSK-1	brain:	n/a
7	chr10:94608070-94608120	AoSMC	blood vessel:	n/a
8	chr10:94608070-94608120	K562	blood:	n/a
9	chr10:94608077-94608127	RPTEC	kidney:	n/a
10	chr10:94608070-94608120	SAEC	small airway:	n/a
11	chr10:94608077-94608127	HEK293	kidney:	embryo
12	chr10:94608070-94608120	HEEpiC	esophagus:	n/a
13	chr10:94608077-94608127	GM19239	blood:	n/a
14	chr10:94608070-94608120	AG04449	skin:	fetal
15	chr10:94608070-94608120	Hela-S3	cervix:	n/a
16	chr10:94608077-94608127	GM12878	blood:	n/a
17	chr10:94608077-94608127	SK-N-MC	brain:	n/a
18	chr10:94608077-94608127	ECC-1	luminal epithelium:	n/a
19	chr10:94608070-94608120	PrEC	prostate:	n/a
20	chr10:94608077-94608127	MCF-7	breast:	n/a
21	chr10:94608070-94608120	IMR90	lung:	fetal
22	chr10:94608077-94608127	SK-N-SH_RA	brain:	n/a
23	chr10:94608077-94608127	HPAEpiC	pulmonary alveolar:	n/a
24	chr10:94608077-94608127	Hepatocyte	liver:	n/a
25	chr10:94608070-94608120	HepG2	liver:	n/a
26	chr10:94608070-94608120	GM06990	blood:	n/a
27	chr10:94608070-94608120	GM12891	blood:	n/a
28	chr10:94608077-94608127	GM12892	blood:	n/a
29	chr10:94608077-94608127	HIPEpiC	eye:	n/a
30	chr10:94608070-94608120	GM12892	blood:	n/a
31	chr10:94608077-94608127	GM12891	blood:	n/a
32	chr10:94608077-94608127	HAEpiC	amniotic membrane:	n/a
33	chr10:94608077-94608127	PrEC	prostate:	n/a
34	chr10:94608070-94608120	SK-N-SH_RA	brain:	n/a
35	chr10:94608077-94608127	AoSMC	blood vessel:	n/a
36	chr10:94608077-94608127	K562	blood:	n/a
37	chr10:94608070-94608120	Jurkat	blood:	n/a
38	chr10:94608070-94608120	GM19239	blood:	n/a
39	chr10:94608070-94608120	NT2-D1	testis:	n/a
40	chr10:94608077-94608127	T-47D	breast:	n/a
41	chr10:94608077-94608127	HRCEpiC	kidney:	n/a
42	chr10:94608077-94608127	BE2_C	brain:	n/a
43	chr10:94608070-94608120	Caco-2	colon:	n/a
44	chr10:94608077-94608127	MCF10A-Er-Src	breast:	n/a
45	chr10:94608070-94608120	CMK	blood:	n/a
46	chr10:94608077-94608127	HRE	kidney:	n/a
47	chr10:94608077-94608127	ProgFib	skin:	n/a
48	chr10:94608070-94608120	HCT-116	colon:	n/a
49	chr10:94608077-94608127	AG04450	lung:	fetal
50	chr10:94608077-94608127	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:94332956..94335217-chr10:94607050..94609174,2	MCF-7	breast:
2	chr1:151512334..151513279-chr10:94608004..94608822,2	Hela-S3	cervix:
3	chr10:94351135..94353608-chr10:94605711..94608172,2	K562	blood:
4	chr10:94607070..94611530-chr10:94637347..94641279,5	MCF-7	breast:
5	chr10:94448193..94452899-chr10:94604769..94609293,6	K562	blood:
6	chr10:94607085..94609622-chr3:12881442..12883571,2	MCF-7	breast:
7	chr10:94607840..94608395-chr12:58329411..58330143,2	NB4	blood:
8	chr10:94351156..94354361-chr10:94606648..94609927,3	MCF-7	breast:
9	chr10:94331601..94334574-chr10:94607928..94609540,2	MCF-7	breast:

Variant related genes	Relation type
EXOC6	TF binding region
EXOC6	CpG island
ENSG00000144713	Chromatin interaction
ENSG00000257698	Chromatin interaction
ENSG00000225118	Chromatin interaction
ENSG00000152804	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000138160	Chromatin interaction
ENSG00000207496	Chromatin interaction
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3357649	chr10:94607197-94609745	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	10 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	chr10:94607200-94609600	Active TSS	Fetal Kidney	kidney
2	chr10:94607400-94609400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr10:94607600-94608200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr10:94607600-94608600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:94607600-94609000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr10:94607600-94609000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr10:94607600-94609000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:94607600-94609000	Active TSS	Cortex derived primary cultured neurospheres	brain
9	chr10:94607600-94609000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr10:94607600-94609000	Active TSS	Brain Hippocampus Middle	brain
11	chr10:94607600-94609000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr10:94607600-94609200	Active TSS	Brain Anterior Caudate	brain
13	chr10:94607600-94609200	Active TSS	Brain Germinal Matrix	brain
14	chr10:94607600-94609200	Active TSS	Brain Substantia Nigra	brain
15	chr10:94607600-94609200	Active TSS	Rectal Smooth Muscle	rectum
16	chr10:94607600-94609400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
17	chr10:94607600-94609400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
18	chr10:94607600-94609400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
19	chr10:94607600-94609400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr10:94607600-94609400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr10:94607600-94609400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr10:94607600-94609400	Active TSS	Brain Cingulate Gyrus	brain
23	chr10:94607600-94609400	Active TSS	Colon Smooth Muscle	Colon
24	chr10:94607600-94609600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr10:94607600-94609600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:94607600-94609600	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr10:94607600-94609600	Active TSS	Stomach Smooth Muscle	stomach
28	chr10:94607600-94609600	Active TSS	HepG2	liver
29	chr10:94607800-94608200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:94607800-94608200	Flanking Active TSS	Fetal Thymus	thymus
31	chr10:94607800-94608200	Flanking Active TSS	HUVEC	blood vessel
32	chr10:94607800-94608800	Active TSS	Placenta Amnion	Placenta Amnion
33	chr10:94607800-94609000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr10:94607800-94609000	Active TSS	H9 Cell Line	embryonic stem cell
35	chr10:94607800-94609000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr10:94607800-94609000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
37	chr10:94607800-94609000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr10:94607800-94609000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:94607800-94609200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr10:94607800-94609200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr10:94607800-94609200	Active TSS	Aorta	Aorta
42	chr10:94607800-94609200	Active TSS	Colonic Mucosa	Colon
43	chr10:94607800-94609200	Active TSS	Esophagus	oesophagus
44	chr10:94607800-94609200	Active TSS	Fetal Brain Female	brain
45	chr10:94607800-94609200	Active TSS	Gastric	stomach
46	chr10:94607800-94609200	Active TSS	Left Ventricle	heart
47	chr10:94607800-94609200	Active TSS	Lung	lung
48	chr10:94607800-94609200	Active TSS	Ovary	ovary
49	chr10:94607800-94609200	Active TSS	Pancreas	Pancrea
50	chr10:94607800-94609200	Active TSS	Small Intestine	intestine

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