Variant report

Variant	rs12261489
Chromosome Location	chr10:49515528-49515529
allele	G/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	chr10:49514145-49515974	H1-neurons	neurons:	n/a	n/a
2	TAF1	chr10:49514500-49515651	H1-neurons	neurons:	n/a	n/a
3	YY1	chr10:49515028-49515558	K562	blood:	n/a	chr10:49515272-49515281 chr10:49515106-49515120 chr10:49515096-49515107 chr10:49515270-49515281
4	RFX5	chr10:49515233-49516077	Hela-S3	cervix:	n/a	n/a
5	UBTF	chr10:49514278-49515881	K562	blood:	n/a	n/a
6	POLR2A	chr10:49514059-49515568	GM12892	blood:	n/a	n/a
7	NR2F2	chr10:49515057-49515790	K562	blood:	n/a	chr10:49515535-49515550
8	MAX	chr10:49514081-49515625	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
9	RCOR1	chr10:49515145-49515614	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr10:49515004-49515631	GM12878	blood:	n/a	n/a
11	POLR2A	chr10:49514192-49515870	MCF10A-Er-Src	breast:	n/a	n/a
12	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
13	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
14	SMARCB1	chr10:49514257-49515660	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr10:49514607-49515540	K562	blood:	n/a	n/a
16	MXI1	chr10:49513707-49516843	SK-N-SH	brain:	n/a	n/a
17	GATA2	chr10:49515366-49515906	SH-SY5Y	brain:	n/a	chr10:49515797-49515813 chr10:49515795-49515816
18	POLR2A	chr10:49515214-49515572	H1-hESC	embryonic stem cell:	n/a	n/a
19	HMGN3	chr10:49514254-49515595	K562	blood:	n/a	n/a
20	MAZ	chr10:49514178-49515723	K562	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
21	POLR2A	chr10:49514449-49515544	H1-hESC	embryonic stem cell:	n/a	n/a
22	MYC	chr10:49514218-49515671	NB4	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
23	UBTF	chr10:49514268-49515854	K562	blood:	n/a	n/a
24	WRNIP1	chr10:49515365-49515560	GM12878	blood:	n/a	n/a
25	HEY1	chr10:49514998-49515577	K562	blood:	n/a	chr10:49515095-49515110 chr10:49515250-49515265 chr10:49515084-49515099 chr10:49515104-49515119
26	CCNT2	chr10:49514277-49515533	K562	blood:	n/a	n/a
27	POLR2A	chr10:49514163-49515630	K562	blood:	n/a	n/a
28	BHLHE40	chr10:49515192-49515938	K562	blood:	n/a	n/a
29	RCOR1	chr10:49515250-49515741	K562	blood:	n/a	n/a
30	SIN3AK20	chr10:49514211-49515602	PANC-1	pancreas:	n/a	n/a
31	MAZ	chr10:49513778-49516109	IMR90	lung:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
32	MXI1	chr10:49515187-49515591	K562	blood:	n/a	n/a
33	POLR2A	chr10:49514303-49515967	HepG2	liver:	n/a	n/a
34	POLR2A	chr10:49513960-49515561	H1-neurons	neurons:	n/a	n/a
35	ZBTB7A	chr10:49514302-49515598	K562	blood:	n/a	chr10:49514797-49514808
36	POLR2A	chr10:49515302-49515583	ProgFib	skin:	n/a	n/a
37	HCFC1	chr10:49513973-49515798	K562	blood:	n/a	n/a
38	MAX	chr10:49514256-49515681	Hela-S3	cervix:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
39	NR2F2	chr10:49514062-49515742	MCF-7	breast:	n/a	chr10:49515535-49515550
40	MXI1	chr10:49513919-49515668	IMR90	lung:	n/a	n/a
41	E2F6	chr10:49513993-49515578	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
42	RCOR1	chr10:49514117-49515989	K562	blood:	n/a	n/a
43	SIN3AK20	chr10:49514319-49515553	K562	blood:	n/a	n/a
44	SIN3A	chr10:49514750-49515574	GM12878	blood:	n/a	chr10:49514805-49514818
45	POLR2A	chr10:49515234-49516312	K562	blood:	n/a	n/a
46	POLR2A	chr10:49514549-49515904	IMR90	lung:	n/a	n/a
47	NR2F2	chr10:49515143-49515932	K562	blood:	n/a	chr10:49515535-49515550
48	MAX	chr10:49513921-49515659	K562	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
49	SIN3A	chr10:49514226-49515886	H1-hESC	embryonic stem cell:	n/a	chr10:49514805-49514818
50	POLR2A	chr10:49514223-49515599	K562	blood:	n/a	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
ENSG00000225482	Chromatin interaction
ENSG00000107643	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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49514000-49515600	Active TSS	Brain Hippocampus Middle	brain
2	chr10:49514000-49515600	Active TSS	Colon Smooth Muscle	Colon
3	chr10:49514000-49515600	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr10:49514000-49515600	Active TSS	Fetal Kidney	kidney
5	chr10:49514000-49515800	Active TSS	Muscle Satellite Cultured Cells	--
6	chr10:49514000-49515800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr10:49514000-49515800	Active TSS	Colonic Mucosa	Colon
8	chr10:49514000-49515800	Active TSS	Fetal Intestine Small	intestine
9	chr10:49514000-49515800	Active TSS	HSMMtube	muscle
10	chr10:49514000-49516200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr10:49514000-49516200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr10:49514000-49516200	Active TSS	Brain Germinal Matrix	brain
13	chr10:49514000-49516400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:49514000-49516400	Active TSS	Fetal Muscle Trunk	muscle
15	chr10:49514200-49515600	Active TSS	Brain Substantia Nigra	brain
16	chr10:49514200-49515600	Active TSS	Gastric	stomach
17	chr10:49514200-49515600	Active TSS	Lung	lung
18	chr10:49514200-49515600	Active TSS	Thymus	Thymus
19	chr10:49514200-49515600	Active TSS	Osteobl	bone
20	chr10:49514200-49515800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr10:49514200-49515800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:49514200-49515800	Active TSS	Aorta	Aorta
23	chr10:49514200-49515800	Active TSS	NH-A	brain
24	chr10:49514200-49516000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr10:49514200-49516000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr10:49514200-49516000	Active TSS	Left Ventricle	heart
27	chr10:49514200-49516200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr10:49514200-49516200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr10:49514200-49516200	Active TSS	Right Ventricle	heart
30	chr10:49514200-49516400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr10:49514200-49516400	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr10:49514200-49516600	Active TSS	HUES64 Cell Line	embryonic stem cell
33	chr10:49514200-49516600	Active TSS	Ovary	ovary
34	chr10:49514200-49516600	Active TSS	Psoas Muscle	Psoas
35	chr10:49514200-49516800	Active TSS	Fetal Brain Female	brain
36	chr10:49514400-49515600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr10:49514400-49515600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr10:49514400-49515600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr10:49514400-49515600	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr10:49514400-49515600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr10:49514400-49515600	Active TSS	Brain Angular Gyrus	brain
42	chr10:49514400-49515600	Active TSS	Brain Cingulate Gyrus	brain
43	chr10:49514400-49515600	Active TSS	Brain Inferior Temporal Lobe	brain
44	chr10:49514400-49515600	Active TSS	Fetal Lung	lung
45	chr10:49514400-49515600	Active TSS	Fetal Muscle Leg	muscle
46	chr10:49514400-49515600	Active TSS	GM12878-XiMat	blood
47	chr10:49514400-49515600	Active TSS	Hela-S3	cervix
48	chr10:49514400-49515600	Active TSS	K562	blood
49	chr10:49514400-49515800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr10:49514400-49515800	Active TSS	HUES48 Cell Line	embryonic stem cell

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