Variant report

Variant	rs568768312
Chromosome Location	chr10:49515084-49515085
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	chr10:49514189-49515353	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	POLR2A	chr10:49514145-49515974	H1-neurons	neurons:	n/a	n/a
5	TAF1	chr10:49514500-49515651	H1-neurons	neurons:	n/a	n/a
6	YY1	chr10:49515028-49515558	K562	blood:	n/a	chr10:49515272-49515281 chr10:49515106-49515120 chr10:49515096-49515107 chr10:49515270-49515281
7	UBTF	chr10:49514278-49515881	K562	blood:	n/a	n/a
8	POLR2A	chr10:49514632-49515355	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:49514059-49515568	GM12892	blood:	n/a	n/a
10	MAX	chr10:49514037-49515419	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
11	NR2F2	chr10:49515057-49515790	K562	blood:	n/a	chr10:49515535-49515550
12	EGR1	chr10:49514231-49515333	K562	blood:	n/a	chr10:49514684-49514697 chr10:49515114-49515124 chr10:49514692-49514701 chr10:49515180-49515190 chr10:49514686-49514696
13	POLR2A	chr10:49514650-49515223	HL-60	blood:	n/a	n/a
14	POLR2A	chr10:49514312-49515373	Gliobla	brain:	n/a	n/a
15	CREB1	chr10:49514094-49515417	HepG2	liver:	n/a	n/a
16	POLR2A	chr10:49514218-49515418	GM19193	blood:	n/a	n/a
17	POLR2A	chr10:49515004-49515157	A549	lung:	n/a	n/a
18	MAX	chr10:49513912-49515490	A549	lung:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
19	MAX	chr10:49514037-49515255	MCF-7	breast:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
20	POLR2A	chr10:49514270-49515442	HepG2	liver:	n/a	n/a
21	MAX	chr10:49514081-49515625	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
22	MAZ	chr10:49514311-49515293	HepG2	liver:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
23	POLR2A	chr10:49515004-49515631	GM12878	blood:	n/a	n/a
24	MAZ	chr10:49514197-49515306	GM12878	blood:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
25	POLR2A	chr10:49514240-49515121	GM18526	blood:	n/a	n/a
26	POLR2A	chr10:49514192-49515870	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr10:49514989-49515277	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr10:49514579-49515302	GM12878	blood:	n/a	n/a
29	E2F6	chr10:49514079-49515252	K562	blood:	n/a	chr10:49515161-49515173 chr10:49514934-49514944 chr10:49515100-49515110 chr10:49515114-49515123 chr10:49514937-49514947 chr10:49514931-49514941
30	EGR1	chr10:49514350-49515278	ECC-1	luminal epithelium:	n/a	chr10:49514684-49514697 chr10:49515114-49515124 chr10:49514692-49514701 chr10:49515180-49515190 chr10:49514686-49514696
31	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
32	POLR2A	chr10:49514623-49515331	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr10:49514406-49515113	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr10:49514400-49515118	HUVEC	blood vessel:	n/a	n/a
35	HDAC2	chr10:49514891-49515302	K562	blood:	n/a	n/a
36	POLR2A	chr10:49514188-49515281	K562	blood:	n/a	n/a
37	E2F4	chr10:49513857-49515254	MCF10A-Er-Src	breast:	n/a	chr10:49515161-49515173 chr10:49514934-49514944 chr10:49515100-49515110 chr10:49515114-49515123 chr10:49514937-49514947 chr10:49514931-49514941
38	TBL1XR1	chr10:49514024-49515240	GM12878	blood:	n/a	n/a
39	CHD2	chr10:49515059-49515323	HepG2	liver:	n/a	n/a
40	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
41	EGR1	chr10:49514015-49515320	HCT-116	colon:	n/a	chr10:49514684-49514697 chr10:49515114-49515124 chr10:49514692-49514701 chr10:49515180-49515190 chr10:49514686-49514696
42	POLR2A	chr10:49514274-49515521	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr10:49514088-49515258	ECC-1	luminal epithelium:	n/a	chr10:49514453-49514462 chr10:49514453-49514462 chr10:49514443-49514452 chr10:49514454-49514461 chr10:49515181-49515191
44	CREB1	chr10:49514204-49515223	GM12878	blood:	n/a	n/a
45	EGR1	chr10:49514236-49515220	MCF-7	breast:	n/a	chr10:49514684-49514697 chr10:49515114-49515124 chr10:49514692-49514701 chr10:49515180-49515190 chr10:49514686-49514696
46	PAX5	chr10:49514965-49515239	GM12878	blood:	n/a	n/a
47	TAF1	chr10:49514583-49515187	HepG2	liver:	n/a	n/a
48	POLR2A	chr10:49514182-49515457	GM18505	blood:	n/a	n/a
49	POLR2A	chr10:49514217-49515084	A549	lung:	n/a	n/a
50	TEAD4	chr10:49513841-49515213	K562	blood:	n/a	n/a

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	chr10:49514688..49515207-chr5:33441143..33441743,2	Hela-S3	cervix:
5	chr10:49498367..49502317-chr10:49513526..49516072,3	MCF-7	breast:
6	chr10:49459652..49462139-chr10:49513267..49515617,2	K562	blood:

Variant related genes	Relation type
MAPK8	TF binding region
ENSG00000113407	Chromatin interaction
ENSG00000170324	Chromatin interaction
ENSG00000111371	Chromatin interaction
ENSG00000107643	Chromatin interaction
ENSG00000225482	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	chr10:49514000-49515200	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr10:49514000-49515400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:49514000-49515400	Active TSS	Rectal Smooth Muscle	rectum
4	chr10:49514000-49515400	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr10:49514000-49515400	Active TSS	Stomach Smooth Muscle	stomach
6	chr10:49514000-49515600	Active TSS	Brain Hippocampus Middle	brain
7	chr10:49514000-49515600	Active TSS	Colon Smooth Muscle	Colon
8	chr10:49514000-49515600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr10:49514000-49515600	Active TSS	Fetal Kidney	kidney
10	chr10:49514000-49515800	Active TSS	Muscle Satellite Cultured Cells	--
11	chr10:49514000-49515800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:49514000-49515800	Active TSS	Colonic Mucosa	Colon
13	chr10:49514000-49515800	Active TSS	Fetal Intestine Small	intestine
14	chr10:49514000-49515800	Active TSS	HSMMtube	muscle
15	chr10:49514000-49516200	Active TSS	H9 Cell Line	embryonic stem cell
16	chr10:49514000-49516200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr10:49514000-49516200	Active TSS	Brain Germinal Matrix	brain
18	chr10:49514000-49516400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr10:49514000-49516400	Active TSS	Fetal Muscle Trunk	muscle
20	chr10:49514200-49515200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr10:49514200-49515400	Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr10:49514200-49515400	Active TSS	Liver	Liver
23	chr10:49514200-49515400	Active TSS	Small Intestine	intestine
24	chr10:49514200-49515600	Active TSS	Brain Substantia Nigra	brain
25	chr10:49514200-49515600	Active TSS	Gastric	stomach
26	chr10:49514200-49515600	Active TSS	Lung	lung
27	chr10:49514200-49515600	Active TSS	Thymus	Thymus
28	chr10:49514200-49515600	Active TSS	Osteobl	bone
29	chr10:49514200-49515800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr10:49514200-49515800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:49514200-49515800	Active TSS	Aorta	Aorta
32	chr10:49514200-49515800	Active TSS	NH-A	brain
33	chr10:49514200-49516000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:49514200-49516000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr10:49514200-49516000	Active TSS	Left Ventricle	heart
36	chr10:49514200-49516200	Active TSS	H1 Cell Line	embryonic stem cell
37	chr10:49514200-49516200	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr10:49514200-49516200	Active TSS	Right Ventricle	heart
39	chr10:49514200-49516400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr10:49514200-49516400	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr10:49514200-49516600	Active TSS	HUES64 Cell Line	embryonic stem cell
42	chr10:49514200-49516600	Active TSS	Ovary	ovary
43	chr10:49514200-49516600	Active TSS	Psoas Muscle	Psoas
44	chr10:49514200-49516800	Active TSS	Fetal Brain Female	brain
45	chr10:49514400-49515200	Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr10:49514400-49515200	Active TSS	Primary B cells from cord blood	blood
47	chr10:49514400-49515200	Active TSS	Primary T cells from cord blood	blood
48	chr10:49514400-49515200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr10:49514400-49515200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr10:49514400-49515200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links