Variant report

Variant	rs373332144
Chromosome Location	chr10:49515374-49515375
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	CHD2	chr10:49514191-49515418	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr10:49514145-49515974	H1-neurons	neurons:	n/a	n/a
3	TAF1	chr10:49514500-49515651	H1-neurons	neurons:	n/a	n/a
4	YY1	chr10:49515028-49515558	K562	blood:	n/a	chr10:49515272-49515281 chr10:49515106-49515120 chr10:49515096-49515107 chr10:49515270-49515281
5	RFX5	chr10:49515233-49516077	Hela-S3	cervix:	n/a	n/a
6	UBTF	chr10:49514278-49515881	K562	blood:	n/a	n/a
7	POLR2A	chr10:49514059-49515568	GM12892	blood:	n/a	n/a
8	MAX	chr10:49514037-49515419	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
9	NR2F2	chr10:49515057-49515790	K562	blood:	n/a	chr10:49515535-49515550
10	CREB1	chr10:49514094-49515417	HepG2	liver:	n/a	n/a
11	POLR2A	chr10:49514218-49515418	GM19193	blood:	n/a	n/a
12	MAX	chr10:49513912-49515490	A549	lung:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
13	POLR2A	chr10:49514270-49515442	HepG2	liver:	n/a	n/a
14	MAX	chr10:49514081-49515625	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
15	RCOR1	chr10:49515145-49515614	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr10:49515004-49515631	GM12878	blood:	n/a	n/a
17	POLR2A	chr10:49514192-49515870	MCF10A-Er-Src	breast:	n/a	n/a
18	CTCF	chr10:49515260-49515410	GM12865	blood:	n/a	n/a
19	MAX	chr10:49514139-49515571	SK-N-SH	brain:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
20	E2F4	chr10:49514152-49515542	K562	blood:	n/a	chr10:49515161-49515173 chr10:49514934-49514944 chr10:49515100-49515110 chr10:49515272-49515281 chr10:49515114-49515123 chr10:49514937-49514947 chr10:49514931-49514941 chr10:49515317-49515332
21	POLR2A	chr10:49514274-49515521	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr10:49514182-49515457	GM18505	blood:	n/a	n/a
23	SMARCB1	chr10:49514257-49515660	Hela-S3	cervix:	n/a	n/a
24	YY1	chr10:49514623-49515453	K562	blood:	n/a	chr10:49515272-49515281 chr10:49514936-49514947 chr10:49514931-49514945 chr10:49514928-49514942 chr10:49514934-49514948 chr10:49514791-49514800 chr10:49515106-49515120 chr10:49514939-49514948 chr10:49515096-49515107 chr10:49514936-49514945 chr10:49515270-49515281
25	MAX	chr10:49513998-49515389	A549	lung:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
26	POLR2A	chr10:49514607-49515540	K562	blood:	n/a	n/a
27	MXI1	chr10:49513707-49516843	SK-N-SH	brain:	n/a	n/a
28	CREB1	chr10:49514197-49515374	K562	blood:	n/a	n/a
29	GATA2	chr10:49515366-49515906	SH-SY5Y	brain:	n/a	chr10:49515797-49515813 chr10:49515795-49515816
30	POLR2A	chr10:49515214-49515572	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr10:49513841-49515516	NB4	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
32	HMGN3	chr10:49514254-49515595	K562	blood:	n/a	n/a
33	CHD2	chr10:49514116-49515410	K562	blood:	n/a	n/a
34	POLR2A	chr10:49514143-49515384	PANC-1	pancreas:	n/a	n/a
35	MAZ	chr10:49514178-49515723	K562	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
36	TAF1	chr10:49514979-49515432	H1-neurons	neurons:	n/a	n/a
37	TBP	chr10:49515314-49515393	HepG2	liver:	n/a	n/a
38	POLR2A	chr10:49514449-49515544	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr10:49514231-49515519	MCF-7	breast:	n/a	n/a
40	YY1	chr10:49514512-49515376	GM12892	blood:	n/a	chr10:49515272-49515281 chr10:49514936-49514947 chr10:49514931-49514945 chr10:49514928-49514942 chr10:49514934-49514948 chr10:49514791-49514800 chr10:49515106-49515120 chr10:49514939-49514948 chr10:49515096-49515107 chr10:49514936-49514945 chr10:49515270-49515281
41	MYC	chr10:49514218-49515671	NB4	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
42	UBTF	chr10:49514268-49515854	K562	blood:	n/a	n/a
43	CTCF	chr10:49515240-49515390	Caco-2	colon:	n/a	n/a
44	WRNIP1	chr10:49515365-49515560	GM12878	blood:	n/a	n/a
45	HEY1	chr10:49514998-49515577	K562	blood:	n/a	chr10:49515095-49515110 chr10:49515250-49515265 chr10:49515084-49515099 chr10:49515104-49515119
46	POLR2A	chr10:49514192-49515491	NB4	blood:	n/a	n/a
47	CCNT2	chr10:49514277-49515533	K562	blood:	n/a	n/a
48	TCF12	chr10:49514179-49515485	ECC-1	luminal epithelium:	n/a	n/a
49	POLR2A	chr10:49514163-49515630	K562	blood:	n/a	n/a
50	BHLHE40	chr10:49515192-49515938	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:49515374-49515424	ovcar-3	ovarian:	n/a
2	chr10:49515374-49515424	NB4	blood:	n/a
3	chr10:49515374-49515424	HUVEC	blood vessel:	n/a
4	chr10:49515374-49515424	AG04450	lung:	fetal
5	chr10:49515374-49515424	HNPCEpiC	eye:	n/a
6	chr10:49515374-49515424	MCF-7	breast:	n/a
7	chr10:49515374-49515424	AG10803	skin:	n/a
8	chr10:49515374-49515424	HEEpiC	esophagus:	n/a
9	chr10:49515374-49515424	Hela-S3	cervix:	n/a
10	chr10:49515374-49515424	Hepatocyte	liver:	n/a
11	chr10:49515374-49515424	HCM	heart:	n/a
12	chr10:49515374-49515424	SK-N-SH	brain:	n/a
13	chr10:49515374-49515424	RPTEC	kidney:	n/a
14	chr10:49515374-49515424	HAEpiC	amniotic membrane:	n/a
15	chr10:49515374-49515424	MCF10A-Er-Src	breast:	n/a
16	chr10:49515374-49515424	SAEC	small airway:	n/a
17	chr10:49515374-49515424	GM12878	blood:	n/a
18	chr10:49515374-49515424	HRPEpiC	eye:	n/a
19	chr10:49515374-49515424	GM19239	blood:	n/a
20	chr10:49515374-49515424	NHBE	bronchial:	n/a
21	chr10:49515374-49515424	ProgFib	skin:	n/a
22	chr10:49515374-49515424	HCPEpiC	choroid plexus:	n/a
23	chr10:49515374-49515424	PANC-1	pancreas:	n/a
24	chr10:49515374-49515424	Caco-2	colon:	n/a
25	chr10:49515374-49515424	HIPEpiC	eye:	n/a
26	chr10:49515374-49515424	BE2_C	brain:	n/a
27	chr10:49515374-49515424	HMEC	breast:	n/a
28	chr10:49515374-49515424	SK-N-SH_RA	brain:	n/a
29	chr10:49515374-49515424	T-47D	breast:	n/a
30	chr10:49515374-49515424	H1-hESC	embryonic stem cell:	embryo
31	chr10:49515374-49515424	IMR90	lung:	fetal
32	chr10:49515374-49515424	LNCaP	prostate:	n/a
33	chr10:49515374-49515424	HEK293	kidney:	embryo
34	chr10:49515374-49515424	ECC-1	luminal epithelium:	n/a
35	chr10:49515374-49515424	HRCEpiC	kidney:	n/a
36	chr10:49515374-49515424	NH-A	brain:	n/a
37	chr10:49515374-49515424	SK-N-MC	brain:	n/a
38	chr10:49515374-49515424	AG09309	skin:	n/a
39	chr10:49515374-49515424	CMK	blood:	n/a
40	chr10:49515374-49515424	HPAEpiC	pulmonary alveolar:	n/a
41	chr10:49515374-49515424	U87	brain:	n/a
42	chr10:49515374-49515424	BJ	skin:	n/a
43	chr10:49515374-49515424	PFSK-1	brain:	n/a
44	chr10:49515374-49515424	HL-60	blood:	n/a
45	chr10:49515374-49515424	GM12892	blood:	n/a
46	chr10:49515374-49515424	AG04449	skin:	fetal
47	chr10:49515374-49515424	HCT-116	colon:	n/a
48	chr10:49515374-49515424	GM12891	blood:	n/a
49	chr10:49515374-49515424	NT2-D1	testis:	n/a
50	chr10:49515374-49515424	HRE	kidney:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49514655..49517342-chr10:49637868..49640207,2	K562	blood:
2	chr10:49496582..49501262-chr10:49513244..49517429,4	K562	blood:
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
ENSG00000170324	Chromatin interaction
ENSG00000225482	Chromatin interaction
ENSG00000107643	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49514000-49515400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr10:49514000-49515400	Active TSS	Rectal Smooth Muscle	rectum
3	chr10:49514000-49515400	Active TSS	Skeletal Muscle Male	skeletal muscle
4	chr10:49514000-49515400	Active TSS	Stomach Smooth Muscle	stomach
5	chr10:49514000-49515600	Active TSS	Brain Hippocampus Middle	brain
6	chr10:49514000-49515600	Active TSS	Colon Smooth Muscle	Colon
7	chr10:49514000-49515600	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr10:49514000-49515600	Active TSS	Fetal Kidney	kidney
9	chr10:49514000-49515800	Active TSS	Muscle Satellite Cultured Cells	--
10	chr10:49514000-49515800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr10:49514000-49515800	Active TSS	Colonic Mucosa	Colon
12	chr10:49514000-49515800	Active TSS	Fetal Intestine Small	intestine
13	chr10:49514000-49515800	Active TSS	HSMMtube	muscle
14	chr10:49514000-49516200	Active TSS	H9 Cell Line	embryonic stem cell
15	chr10:49514000-49516200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr10:49514000-49516200	Active TSS	Brain Germinal Matrix	brain
17	chr10:49514000-49516400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr10:49514000-49516400	Active TSS	Fetal Muscle Trunk	muscle
19	chr10:49514200-49515400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr10:49514200-49515400	Active TSS	Liver	Liver
21	chr10:49514200-49515400	Active TSS	Small Intestine	intestine
22	chr10:49514200-49515600	Active TSS	Brain Substantia Nigra	brain
23	chr10:49514200-49515600	Active TSS	Gastric	stomach
24	chr10:49514200-49515600	Active TSS	Lung	lung
25	chr10:49514200-49515600	Active TSS	Thymus	Thymus
26	chr10:49514200-49515600	Active TSS	Osteobl	bone
27	chr10:49514200-49515800	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr10:49514200-49515800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr10:49514200-49515800	Active TSS	Aorta	Aorta
30	chr10:49514200-49515800	Active TSS	NH-A	brain
31	chr10:49514200-49516000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:49514200-49516000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:49514200-49516000	Active TSS	Left Ventricle	heart
34	chr10:49514200-49516200	Active TSS	H1 Cell Line	embryonic stem cell
35	chr10:49514200-49516200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr10:49514200-49516200	Active TSS	Right Ventricle	heart
37	chr10:49514200-49516400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr10:49514200-49516400	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr10:49514200-49516600	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr10:49514200-49516600	Active TSS	Ovary	ovary
41	chr10:49514200-49516600	Active TSS	Psoas Muscle	Psoas
42	chr10:49514200-49516800	Active TSS	Fetal Brain Female	brain
43	chr10:49514400-49515400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:49514400-49515400	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr10:49514400-49515400	Active TSS	Primary B cells from peripheral blood	blood
46	chr10:49514400-49515400	Active TSS	Primary T cells fromperipheralblood	blood
47	chr10:49514400-49515400	Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr10:49514400-49515400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr10:49514400-49515400	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr10:49514400-49515400	Active TSS	Primary T helper naive cells fromperipheralblood	blood

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