Variant report

Variant	rs12775943
Chromosome Location	chr10:49514782-49514783
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	chr10:49514189-49515353	GM19099	blood:	n/a	n/a
2	CHD2	chr10:49514191-49515418	Hela-S3	cervix:	n/a	n/a
3	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
4	FOXA1	chr10:49514171-49514831	T-47D	breast:	n/a	n/a
5	POLR2A	chr10:49514145-49515974	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr10:49514260-49514998	GM12878	blood:	n/a	n/a
7	CREB1	chr10:49514135-49515002	H1-hESC	embryonic stem cell:	n/a	n/a
8	E2F6	chr10:49514102-49514852	A549	lung:	n/a	n/a
9	MAX	chr10:49514105-49514982	H1-hESC	embryonic stem cell:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
10	TAF1	chr10:49514398-49515000	K562	blood:	n/a	n/a
11	TAF1	chr10:49514500-49515651	H1-neurons	neurons:	n/a	n/a
12	POLR2A	chr10:49514292-49515033	K562	blood:	n/a	n/a
13	MXI1	chr10:49514354-49514877	K562	blood:	n/a	n/a
14	YY1	chr10:49514639-49514905	SK-N-SH_RA	brain:	n/a	chr10:49514791-49514800
15	POLR2A	chr10:49514283-49515019	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:49514582-49514997	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr10:49514216-49514920	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
18	TAL1	chr10:49514250-49514891	K562	blood:	n/a	n/a
19	UBTF	chr10:49514278-49515881	K562	blood:	n/a	n/a
20	CEBPB	chr10:49514412-49514919	Hela-S3	cervix:	n/a	n/a
21	CREB1	chr10:49514529-49514931	A549	lung:	n/a	n/a
22	POLR2A	chr10:49514632-49515355	GM12878	blood:	n/a	n/a
23	TCF3	chr10:49514185-49514967	GM12878	blood:	n/a	chr10:49514243-49514253 chr10:49514241-49514255
24	ELK1	chr10:49514343-49514798	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr10:49514059-49515568	GM12892	blood:	n/a	n/a
26	SIN3AK20	chr10:49514624-49514861	HepG2	liver:	n/a	n/a
27	MAX	chr10:49514037-49515419	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
28	POLR2A	chr10:49514659-49514893	GM12891	blood:	n/a	n/a
29	CBX3	chr10:49513931-49514887	K562	blood:	n/a	n/a
30	TCF12	chr10:49514634-49514913	GM12878	blood:	n/a	n/a
31	NRF1	chr10:49514261-49514850	H1-hESC	embryonic stem cell:	n/a	chr10:49514685-49514696
32	ZKSCAN1	chr10:49514742-49514829	Hela-S3	cervix:	n/a	n/a
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	POLR2A	chr10:49514650-49515223	HL-60	blood:	n/a	n/a
36	TAF1	chr10:49514615-49514929	SK-N-SH	brain:	n/a	n/a
37	POLR2A	chr10:49514312-49515373	Gliobla	brain:	n/a	n/a
38	CREB1	chr10:49514094-49515417	HepG2	liver:	n/a	n/a
39	PAX5	chr10:49514265-49514818	GM12878	blood:	n/a	n/a
40	ETS1	chr10:49514297-49514906	K562	blood:	n/a	chr10:49514312-49514323 chr10:49514470-49514483
41	RFX5	chr10:49514333-49514889	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr10:49514218-49515418	GM19193	blood:	n/a	n/a
43	RCOR1	chr10:49514421-49514857	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr10:49514277-49514979	HCT-116	colon:	n/a	n/a
45	TAF1	chr10:49514550-49514848	GM12878	blood:	n/a	n/a
46	MAX	chr10:49513912-49515490	A549	lung:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
47	FOS	chr10:49514722-49514861	MCF10A-Er-Src	breast:	n/a	n/a
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.	Distal block	Cell Line	Cell type
1	chr10:49514380..49515188-chr12:46662249..46662996,2	Hela-S3	cervix:
2	chr10:49514655..49517342-chr10:49637868..49640207,2	K562	blood:
3	chr10:49496582..49501262-chr10:49513244..49517429,4	K562	blood:
4	chr10:49514520..49515023-chr9:91933231..91933828,2	Hela-S3	cervix:
5	chr10:49514688..49515207-chr5:33441143..33441743,2	Hela-S3	cervix:
6	chr10:49514463..49514994-chr17:62501665..62502574,2	HCT-116	colon:
7	chr10:49498367..49502317-chr10:49513526..49516072,3	MCF-7	breast:
8	chr10:49459652..49462139-chr10:49513267..49515617,2	K562	blood:

Variant related genes	Relation type
MAPK8	TF binding region
ENSG00000107643	Chromatin interaction
ENSG00000187742	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000225482	Chromatin interaction
ENSG00000113407	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000170324	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49514000-49514800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr10:49514000-49515200	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr10:49514000-49515400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr10:49514000-49515400	Active TSS	Rectal Smooth Muscle	rectum
5	chr10:49514000-49515400	Active TSS	Skeletal Muscle Male	skeletal muscle
6	chr10:49514000-49515400	Active TSS	Stomach Smooth Muscle	stomach
7	chr10:49514000-49515600	Active TSS	Brain Hippocampus Middle	brain
8	chr10:49514000-49515600	Active TSS	Colon Smooth Muscle	Colon
9	chr10:49514000-49515600	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr10:49514000-49515600	Active TSS	Fetal Kidney	kidney
11	chr10:49514000-49515800	Active TSS	Muscle Satellite Cultured Cells	--
12	chr10:49514000-49515800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr10:49514000-49515800	Active TSS	Colonic Mucosa	Colon
14	chr10:49514000-49515800	Active TSS	Fetal Intestine Small	intestine
15	chr10:49514000-49515800	Active TSS	HSMMtube	muscle
16	chr10:49514000-49516200	Active TSS	H9 Cell Line	embryonic stem cell
17	chr10:49514000-49516200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr10:49514000-49516200	Active TSS	Brain Germinal Matrix	brain
19	chr10:49514000-49516400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr10:49514000-49516400	Active TSS	Fetal Muscle Trunk	muscle
21	chr10:49514200-49514800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:49514200-49514800	Transcr. at gene 5' and 3'	Right Atrium	heart
23	chr10:49514200-49515200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr10:49514200-49515400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr10:49514200-49515400	Active TSS	Liver	Liver
26	chr10:49514200-49515400	Active TSS	Small Intestine	intestine
27	chr10:49514200-49515600	Active TSS	Brain Substantia Nigra	brain
28	chr10:49514200-49515600	Active TSS	Gastric	stomach
29	chr10:49514200-49515600	Active TSS	Lung	lung
30	chr10:49514200-49515600	Active TSS	Thymus	Thymus
31	chr10:49514200-49515600	Active TSS	Osteobl	bone
32	chr10:49514200-49515800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr10:49514200-49515800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr10:49514200-49515800	Active TSS	Aorta	Aorta
35	chr10:49514200-49515800	Active TSS	NH-A	brain
36	chr10:49514200-49516000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr10:49514200-49516000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr10:49514200-49516000	Active TSS	Left Ventricle	heart
39	chr10:49514200-49516200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr10:49514200-49516200	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr10:49514200-49516200	Active TSS	Right Ventricle	heart
42	chr10:49514200-49516400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr10:49514200-49516400	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr10:49514200-49516600	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr10:49514200-49516600	Active TSS	Ovary	ovary
46	chr10:49514200-49516600	Active TSS	Psoas Muscle	Psoas
47	chr10:49514200-49516800	Active TSS	Fetal Brain Female	brain
48	chr10:49514400-49514800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr10:49514400-49514800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr10:49514400-49515200	Active TSS	Primary neutrophils fromperipheralblood	blood

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