Variant report

Variant	rs375072731
Chromosome Location	chr10:49514379-49514380
allele	A/G
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	MYC	chr10:49514363-49514553	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
5	FOXA1	chr10:49514171-49514831	T-47D	breast:	n/a	n/a
6	MAFK	chr10:49514204-49514537	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr10:49514280-49514430	HMEC	breast:	n/a	chr10:49514313-49514326 chr10:49514311-49514327
8	RAD21	chr10:49514082-49514578	H1-hESC	embryonic stem cell:	n/a	chr10:49514478-49514492
9	POLR2A	chr10:49514145-49515974	H1-neurons	neurons:	n/a	n/a
10	POLR2A	chr10:49514260-49514998	GM12878	blood:	n/a	n/a
11	EP300	chr10:49514308-49514759	T-47D	breast:	n/a	n/a
12	CREB1	chr10:49514135-49515002	H1-hESC	embryonic stem cell:	n/a	n/a
13	E2F6	chr10:49514102-49514852	A549	lung:	n/a	n/a
14	MAX	chr10:49514105-49514982	H1-hESC	embryonic stem cell:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
15	CTCF	chr10:49514252-49514392	Fibrobl	skin:	n/a	chr10:49514313-49514326 chr10:49514311-49514327
16	POLR2A	chr10:49514292-49515033	K562	blood:	n/a	n/a
17	USF1	chr10:49514201-49514703	SK-N-SH	brain:	n/a	chr10:49514447-49514463
18	MXI1	chr10:49514354-49514877	K562	blood:	n/a	n/a
19	POLR2A	chr10:49514269-49514536	A549	lung:	n/a	n/a
20	TCF12	chr10:49514122-49514543	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr10:49514283-49515019	GM12878	blood:	n/a	n/a
22	MAX	chr10:49514216-49514920	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
23	TAL1	chr10:49514250-49514891	K562	blood:	n/a	n/a
24	UBTF	chr10:49514278-49515881	K562	blood:	n/a	n/a
25	STAT1	chr10:49514240-49514581	GM12878	blood:	n/a	n/a
26	POLR2A	chr10:49514229-49514448	H1-hESC	embryonic stem cell:	n/a	n/a
27	TCF3	chr10:49514185-49514967	GM12878	blood:	n/a	chr10:49514243-49514253 chr10:49514241-49514255
28	ELK1	chr10:49514343-49514798	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr10:49514059-49515568	GM12892	blood:	n/a	n/a
30	USF1	chr10:49514216-49514603	H1-hESC	embryonic stem cell:	n/a	chr10:49514447-49514463
31	MAX	chr10:49514126-49514607	SK-N-SH	brain:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
32	MAX	chr10:49514037-49515419	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
33	MYC	chr10:49514301-49514485	GM12878	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
34	CBX3	chr10:49513931-49514887	K562	blood:	n/a	n/a
35	NRF1	chr10:49514261-49514850	H1-hESC	embryonic stem cell:	n/a	chr10:49514685-49514696
36	MYC	chr10:49514259-49514554	MCF-7	breast:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461
37	NRF1	chr10:49514237-49514888	GM12878	blood:	n/a	chr10:49514685-49514696
38	EGR1	chr10:49514231-49515333	K562	blood:	n/a	chr10:49514684-49514697 chr10:49515114-49515124 chr10:49514692-49514701 chr10:49515180-49515190 chr10:49514686-49514696
39	NR2F2	chr10:49514090-49514757	K562	blood:	n/a	n/a
40	POLR2A	chr10:49514211-49514486	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr10:49514312-49515373	Gliobla	brain:	n/a	n/a
42	EBF1	chr10:49513994-49514637	GM12878	blood:	n/a	chr10:49514433-49514443 chr10:49514434-49514443 chr10:49514432-49514443
43	WRNIP1	chr10:49514095-49514413	GM12878	blood:	n/a	n/a
44	CREB1	chr10:49514094-49515417	HepG2	liver:	n/a	n/a
45	NR2F2	chr10:49514082-49514695	MCF-7	breast:	n/a	n/a
46	PAX5	chr10:49514265-49514818	GM12878	blood:	n/a	n/a
47	ETS1	chr10:49514297-49514906	K562	blood:	n/a	chr10:49514312-49514323 chr10:49514470-49514483
48	RFX5	chr10:49514333-49514889	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr10:49514218-49515418	GM19193	blood:	n/a	n/a
50	POLR2A	chr10:49514277-49514979	HCT-116	colon:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49514337-49514387	HCM	heart:	n/a
2	chr10:49514337-49514387	HNPCEpiC	eye:	n/a
3	chr10:49514337-49514387	SAEC	small airway:	n/a
4	chr10:49514337-49514387	AoSMC	blood vessel:	n/a
5	chr10:49514337-49514387	HepG2	liver:	n/a
6	chr10:49514337-49514387	NH-A	brain:	n/a
7	chr10:49514337-49514387	HMEC	breast:	n/a
8	chr10:49514337-49514387	SK-N-MC	brain:	n/a
9	chr10:49514337-49514387	HEEpiC	esophagus:	n/a
10	chr10:49514337-49514387	NB4	blood:	n/a
11	chr10:49514337-49514387	SK-N-SH	brain:	n/a
12	chr10:49514337-49514387	HRCEpiC	kidney:	n/a
13	chr10:49514337-49514387	GM06990	blood:	n/a
14	chr10:49514337-49514387	LNCaP	prostate:	n/a
15	chr10:49514337-49514387	HCF	heart:	n/a
16	chr10:49514337-49514387	IMR90	lung:	fetal
17	chr10:49514337-49514387	BE2_C	brain:	n/a
18	chr10:49514337-49514387	Caco-2	colon:	n/a
19	chr10:49514337-49514387	A549	lung:	n/a
20	chr10:49514337-49514387	AG04450	lung:	fetal
21	chr10:49514337-49514387	GM19239	blood:	n/a
22	chr10:49514337-49514387	RPTEC	kidney:	n/a
23	chr10:49514337-49514387	HIPEpiC	eye:	n/a
24	chr10:49514337-49514387	Jurkat	blood:	n/a
25	chr10:49514337-49514387	AG09309	skin:	n/a
26	chr10:49514337-49514387	SKMC	muscle:	n/a
27	chr10:49514337-49514387	HRPEpiC	eye:	n/a
28	chr10:49514337-49514387	NHDF-neo	bronchial:	n/a
29	chr10:49514337-49514387	MCF10A-Er-Src	breast:	n/a
30	chr10:49514337-49514387	HPAEpiC	pulmonary alveolar:	n/a
31	chr10:49514337-49514387	HCT-116	colon:	n/a
32	chr10:49514337-49514387	HAEpiC	amniotic membrane:	n/a
33	chr10:49514337-49514387	T-47D	breast:	n/a
34	chr10:49514337-49514387	AG09319	gingival:	n/a
35	chr10:49514337-49514387	ECC-1	luminal epithelium:	n/a
36	chr10:49514337-49514387	Hepatocyte	liver:	n/a
37	chr10:49514337-49514387	HL-60	blood:	n/a
38	chr10:49514337-49514387	CMK	blood:	n/a
39	chr10:49514337-49514387	GM12878	blood:	n/a
40	chr10:49514337-49514387	H1-hESC	embryonic stem cell:	embryo
41	chr10:49514337-49514387	HRE	kidney:	n/a
42	chr10:49514337-49514387	GM12891	blood:	n/a
43	chr10:49514337-49514387	HEK293	kidney:	embryo
44	chr10:49514337-49514387	K562	blood:	n/a
45	chr10:49514337-49514387	ovcar-3	ovarian:	n/a
46	chr10:49514337-49514387	U87	brain:	n/a
47	chr10:49514337-49514387	AG10803	skin:	n/a
48	chr10:49514337-49514387	SK-N-SH_RA	brain:	n/a
49	chr10:49514337-49514387	GM12892	blood:	n/a
50	chr10:49514337-49514387	ProgFib	skin:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49496582..49501262-chr10:49513244..49517429,4	K562	blood:
2	chr10:49495793..49496380-chr10:49514095..49514687,2	MCF-7	breast:
3	chr10:49498367..49502317-chr10:49513526..49516072,3	MCF-7	breast:
4	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

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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49511400-49514400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:49514000-49514400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr10:49514000-49514400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
4	chr10:49514000-49514400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr10:49514000-49514400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
6	chr10:49514000-49514400	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr10:49514000-49514400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
8	chr10:49514000-49514400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
9	chr10:49514000-49514400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
10	chr10:49514000-49514400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr10:49514000-49514400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr10:49514000-49514400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
13	chr10:49514000-49514400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
14	chr10:49514000-49514400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr10:49514000-49514400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr10:49514000-49514400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr10:49514000-49514400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr10:49514000-49514400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr10:49514000-49514400	Flanking Active TSS	Brain Angular Gyrus	brain
20	chr10:49514000-49514400	Flanking Active TSS	Brain Anterior Caudate	brain
21	chr10:49514000-49514400	Flanking Active TSS	Brain Cingulate Gyrus	brain
22	chr10:49514000-49514400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
23	chr10:49514000-49514400	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr10:49514000-49514400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr10:49514000-49514400	Flanking Active TSS	Fetal Brain Male	brain
26	chr10:49514000-49514400	Flanking Active TSS	Fetal Intestine Large	intestine
27	chr10:49514000-49514400	Flanking Active TSS	Fetal Lung	lung
28	chr10:49514000-49514400	Flanking Active TSS	Fetal Thymus	thymus
29	chr10:49514000-49514400	Flanking Active TSS	A549	lung
30	chr10:49514000-49514400	Flanking Active TSS	GM12878-XiMat	blood
31	chr10:49514000-49514400	Flanking Active TSS	Hela-S3	cervix
32	chr10:49514000-49514400	Flanking Active TSS	K562	blood
33	chr10:49514000-49514400	Flanking Active TSS	NHEK	skin
34	chr10:49514000-49514600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr10:49514000-49514600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr10:49514000-49514600	Enhancers	Spleen	Spleen
37	chr10:49514000-49514600	Flanking Active TSS	Dnd41	blood
38	chr10:49514000-49514600	Flanking Active TSS	HMEC	breast
39	chr10:49514000-49514600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr10:49514000-49514800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr10:49514000-49515200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr10:49514000-49515400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:49514000-49515400	Active TSS	Rectal Smooth Muscle	rectum
44	chr10:49514000-49515400	Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr10:49514000-49515400	Active TSS	Stomach Smooth Muscle	stomach
46	chr10:49514000-49515600	Active TSS	Brain Hippocampus Middle	brain
47	chr10:49514000-49515600	Active TSS	Colon Smooth Muscle	Colon
48	chr10:49514000-49515600	Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr10:49514000-49515600	Active TSS	Fetal Kidney	kidney
50	chr10:49514000-49515800	Active TSS	Muscle Satellite Cultured Cells	--

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