Variant report

Variant	rs369795429
Chromosome Location	chr10:49514570-49514571
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	POLR2A	chr10:49514189-49515353	GM19099	blood:	n/a	n/a
2	CHD2	chr10:49514191-49515418	Hela-S3	cervix:	n/a	n/a
3	USF1	chr10:49514148-49514657	SK-N-SH	brain:	n/a	chr10:49514447-49514463
4	HA-E2F1	chr10:49514412-49515325	Hela-S3	cervix:	n/a	chr10:49515161-49515173 chr10:49514934-49514944 chr10:49515100-49515110 chr10:49515272-49515281 chr10:49515114-49515123 chr10:49514937-49514947 chr10:49514931-49514941
5	FOXA1	chr10:49514171-49514831	T-47D	breast:	n/a	n/a
6	RAD21	chr10:49514082-49514578	H1-hESC	embryonic stem cell:	n/a	chr10:49514478-49514492
7	POLR2A	chr10:49514145-49515974	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr10:49514260-49514998	GM12878	blood:	n/a	n/a
9	EP300	chr10:49514308-49514759	T-47D	breast:	n/a	n/a
10	CREB1	chr10:49514135-49515002	H1-hESC	embryonic stem cell:	n/a	n/a
11	E2F6	chr10:49514102-49514852	A549	lung:	n/a	n/a
12	MAX	chr10:49514105-49514982	H1-hESC	embryonic stem cell:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
13	TAF1	chr10:49514398-49515000	K562	blood:	n/a	n/a
14	TAF1	chr10:49514500-49515651	H1-neurons	neurons:	n/a	n/a
15	POLR2A	chr10:49514292-49515033	K562	blood:	n/a	n/a
16	USF1	chr10:49514201-49514703	SK-N-SH	brain:	n/a	chr10:49514447-49514463
17	MXI1	chr10:49514354-49514877	K562	blood:	n/a	n/a
18	POLR2A	chr10:49514283-49515019	GM12878	blood:	n/a	n/a
19	MAX	chr10:49514216-49514920	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
20	TAL1	chr10:49514250-49514891	K562	blood:	n/a	n/a
21	UBTF	chr10:49514278-49515881	K562	blood:	n/a	n/a
22	CEBPB	chr10:49514412-49514919	Hela-S3	cervix:	n/a	n/a
23	STAT1	chr10:49514240-49514581	GM12878	blood:	n/a	n/a
24	CREB1	chr10:49514529-49514931	A549	lung:	n/a	n/a
25	TCF3	chr10:49514185-49514967	GM12878	blood:	n/a	chr10:49514243-49514253 chr10:49514241-49514255
26	ELK1	chr10:49514343-49514798	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr10:49514059-49515568	GM12892	blood:	n/a	n/a
28	USF1	chr10:49514216-49514603	H1-hESC	embryonic stem cell:	n/a	chr10:49514447-49514463
29	MAX	chr10:49514126-49514607	SK-N-SH	brain:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
30	MAX	chr10:49514037-49515419	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
31	CBX3	chr10:49513931-49514887	K562	blood:	n/a	n/a
32	NRF1	chr10:49514261-49514850	H1-hESC	embryonic stem cell:	n/a	chr10:49514685-49514696
33	NRF1	chr10:49514237-49514888	GM12878	blood:	n/a	chr10:49514685-49514696
34	EGR1	chr10:49514231-49515333	K562	blood:	n/a	chr10:49514684-49514697 chr10:49515114-49515124 chr10:49514692-49514701 chr10:49515180-49515190 chr10:49514686-49514696
35	NR2F2	chr10:49514090-49514757	K562	blood:	n/a	n/a
36	POLR2A	chr10:49514312-49515373	Gliobla	brain:	n/a	n/a
37	EBF1	chr10:49513994-49514637	GM12878	blood:	n/a	chr10:49514433-49514443 chr10:49514434-49514443 chr10:49514432-49514443
38	CREB1	chr10:49514094-49515417	HepG2	liver:	n/a	n/a
39	NR2F2	chr10:49514082-49514695	MCF-7	breast:	n/a	n/a
40	PAX5	chr10:49514265-49514818	GM12878	blood:	n/a	n/a
41	ETS1	chr10:49514297-49514906	K562	blood:	n/a	chr10:49514312-49514323 chr10:49514470-49514483
42	RFX5	chr10:49514333-49514889	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr10:49514218-49515418	GM19193	blood:	n/a	n/a
44	RCOR1	chr10:49514421-49514857	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr10:49514277-49514979	HCT-116	colon:	n/a	n/a
46	TAF1	chr10:49514550-49514848	GM12878	blood:	n/a	n/a
47	MAX	chr10:49513912-49515490	A549	lung:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
48	ELF1	chr10:49514161-49514865	K562	blood:	n/a	chr10:49514736-49514748 chr10:49514856-49514865 chr10:49514764-49514776
49	MAX	chr10:49514037-49515255	MCF-7	breast:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
50	SP1	chr10:49514210-49514901	GM12878	blood:	n/a	chr10:49514490-49514502 chr10:49514532-49514546 chr10:49514491-49514501 chr10:49514490-49514502 chr10:49514470-49514479 chr10:49514491-49514501 chr10:49514469-49514481 chr10:49514469-49514481

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49514530-49514580	HAEpiC	amniotic membrane:	n/a
2	chr10:49514530-49514580	AG09319	gingival:	n/a
3	chr10:49514530-49514580	BE2_C	brain:	n/a
4	chr10:49514530-49514580	HepG2	liver:	n/a
5	chr10:49514546-49514596	GM12891	blood:	n/a
6	chr10:49514546-49514596	HNPCEpiC	eye:	n/a
7	chr10:49514530-49514580	HNPCEpiC	eye:	n/a
8	chr10:49514530-49514580	Hepatocyte	liver:	n/a
9	chr10:49514530-49514580	AG09309	skin:	n/a
10	chr10:49514530-49514580	Jurkat	blood:	n/a
11	chr10:49514546-49514596	HRE	kidney:	n/a
12	chr10:49514546-49514596	GM12892	blood:	n/a
13	chr10:49514530-49514580	T-47D	breast:	n/a
14	chr10:49514546-49514596	BJ	skin:	n/a
15	chr10:49514546-49514596	HCM	heart:	n/a
16	chr10:49514546-49514596	HCF	heart:	n/a
17	chr10:49514530-49514580	NHBE	bronchial:	n/a
18	chr10:49514546-49514596	GM19239	blood:	n/a
19	chr10:49514530-49514580	HCT-116	colon:	n/a
20	chr10:49514530-49514580	GM06990	blood:	n/a
21	chr10:49514530-49514580	PrEC	prostate:	n/a
22	chr10:49514530-49514580	Caco-2	colon:	n/a
23	chr10:49514546-49514596	HCPEpiC	choroid plexus:	n/a
24	chr10:49514546-49514596	IMR90	lung:	fetal
25	chr10:49514546-49514596	SK-N-SH	brain:	n/a
26	chr10:49514530-49514580	SK-N-SH_RA	brain:	n/a
27	chr10:49514546-49514596	HL-60	blood:	n/a
28	chr10:49514546-49514596	NB4	blood:	n/a
29	chr10:49514546-49514596	GM12878	blood:	n/a
30	chr10:49514546-49514596	AG04450	lung:	fetal
31	chr10:49514530-49514580	A549	lung:	n/a
32	chr10:49514546-49514596	NHBE	bronchial:	n/a
33	chr10:49514530-49514580	NHDF-neo	bronchial:	n/a
34	chr10:49514530-49514580	NB4	blood:	n/a
35	chr10:49514530-49514580	LNCaP	prostate:	n/a
36	chr10:49514530-49514580	H1-hESC	embryonic stem cell:	embryo
37	chr10:49514546-49514596	HEK293	kidney:	embryo
38	chr10:49514546-49514596	NT2-D1	testis:	n/a
39	chr10:49514530-49514580	HL-60	blood:	n/a
40	chr10:49514546-49514596	AG09309	skin:	n/a
41	chr10:49514546-49514596	T-47D	breast:	n/a
42	chr10:49514546-49514596	HMEC	breast:	n/a
43	chr10:49514546-49514596	AG09319	gingival:	n/a
44	chr10:49514546-49514596	HepG2	liver:	n/a
45	chr10:49514530-49514580	GM12891	blood:	n/a
46	chr10:49514530-49514580	Hela-S3	cervix:	n/a
47	chr10:49514546-49514596	HCT-116	colon:	n/a
48	chr10:49514546-49514596	AoSMC	blood vessel:	n/a
49	chr10:49514546-49514596	NH-A	brain:	n/a
50	chr10:49514546-49514596	Caco-2	colon:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49514380..49515188-chr12:46662249..46662996,2	Hela-S3	cervix:
2	chr10:49496582..49501262-chr10:49513244..49517429,4	K562	blood:
3	chr10:49495793..49496380-chr10:49514095..49514687,2	MCF-7	breast:
4	chr10:49514520..49515023-chr9:91933231..91933828,2	Hela-S3	cervix:
5	chr10:49514463..49514994-chr17:62501665..62502574,2	HCT-116	colon:
6	chr10:49498367..49502317-chr10:49513526..49516072,3	MCF-7	breast:
7	chr10:49459652..49462139-chr10:49513267..49515617,2	K562	blood:

Variant related genes	Relation type
MAPK8	TF binding region
MAPK8	CpG island
ENSG00000225482	Chromatin interaction
ENSG00000170324	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000187742	Chromatin interaction
ENSG00000108654	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	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv550812	chr10:49484698-49524715	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
7	esv3388984	chr10:49513771-49516519	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
8	esv3449549	chr10:49513996-49515994	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49514000-49514600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:49514000-49514600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr10:49514000-49514600	Enhancers	Spleen	Spleen
4	chr10:49514000-49514600	Flanking Active TSS	Dnd41	blood
5	chr10:49514000-49514600	Flanking Active TSS	HMEC	breast
6	chr10:49514000-49514600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
7	chr10:49514000-49514800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr10:49514000-49515200	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr10:49514000-49515400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr10:49514000-49515400	Active TSS	Rectal Smooth Muscle	rectum
11	chr10:49514000-49515400	Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr10:49514000-49515400	Active TSS	Stomach Smooth Muscle	stomach
13	chr10:49514000-49515600	Active TSS	Brain Hippocampus Middle	brain
14	chr10:49514000-49515600	Active TSS	Colon Smooth Muscle	Colon
15	chr10:49514000-49515600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr10:49514000-49515600	Active TSS	Fetal Kidney	kidney
17	chr10:49514000-49515800	Active TSS	Muscle Satellite Cultured Cells	--
18	chr10:49514000-49515800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:49514000-49515800	Active TSS	Colonic Mucosa	Colon
20	chr10:49514000-49515800	Active TSS	Fetal Intestine Small	intestine
21	chr10:49514000-49515800	Active TSS	HSMMtube	muscle
22	chr10:49514000-49516200	Active TSS	H9 Cell Line	embryonic stem cell
23	chr10:49514000-49516200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:49514000-49516200	Active TSS	Brain Germinal Matrix	brain
25	chr10:49514000-49516400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:49514000-49516400	Active TSS	Fetal Muscle Trunk	muscle
27	chr10:49514200-49514600	Enhancers	Primary hematopoietic stem cells	blood
28	chr10:49514200-49514600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:49514200-49514600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr10:49514200-49514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr10:49514200-49514800	Transcr. at gene 5' and 3'	Right Atrium	heart
32	chr10:49514200-49515200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr10:49514200-49515400	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr10:49514200-49515400	Active TSS	Liver	Liver
35	chr10:49514200-49515400	Active TSS	Small Intestine	intestine
36	chr10:49514200-49515600	Active TSS	Brain Substantia Nigra	brain
37	chr10:49514200-49515600	Active TSS	Gastric	stomach
38	chr10:49514200-49515600	Active TSS	Lung	lung
39	chr10:49514200-49515600	Active TSS	Thymus	Thymus
40	chr10:49514200-49515600	Active TSS	Osteobl	bone
41	chr10:49514200-49515800	Active TSS	ES-I3 Cell Line	embryonic stem cell
42	chr10:49514200-49515800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:49514200-49515800	Active TSS	Aorta	Aorta
44	chr10:49514200-49515800	Active TSS	NH-A	brain
45	chr10:49514200-49516000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr10:49514200-49516000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr10:49514200-49516000	Active TSS	Left Ventricle	heart
48	chr10:49514200-49516200	Active TSS	H1 Cell Line	embryonic stem cell
49	chr10:49514200-49516200	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr10:49514200-49516200	Active TSS	Right Ventricle	heart

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