Variant report

Variant	rs2274035
Chromosome Location	chr10:6019180-6019181
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	POLR2A	chr10:6018915-6019933	Gliobla	brain:	n/a	n/a
2	POLR2A	chr10:6018655-6020098	HCT-116	colon:	n/a	n/a
3	IRF1	chr10:6017875-6020558	K562	blood:	n/a	chr10:6019562-6019573 chr10:6018202-6018213 chr10:6019563-6019576 chr10:6019564-6019578 chr10:6019558-6019575 chr10:6018198-6018212 chr10:6019563-6019576 chr10:6019560-6019574 chr10:6019562-6019582 chr10:6018201-6018215 chr10:6018199-6018213 chr10:6018200-6018213 chr10:6018200-6018213 chr10:6018055-6018065 chr10:6019563-6019574 chr10:6019552-6019569 chr10:6019561-6019575 chr10:6019563-6019575 chr10:6018200-6018213 chr10:6018055-6018069 chr10:6019563-6019575 chr10:6018201-6018215 chr10:6019556-6019576 chr10:6019557-6019570 chr10:6019563-6019577 chr10:6018200-6018214 chr10:6019554-6019571 chr10:6019557-6019571 chr10:6019558-6019579 chr10:6018201-6018214
4	POLR2A	chr10:6018586-6020078	GM12878	blood:	n/a	n/a
5	SMC3	chr10:6018567-6019208	Hela-S3	cervix:	n/a	n/a
6	E2F4	chr10:6018957-6020221	K562	blood:	n/a	chr10:6020064-6020074 chr10:6020020-6020029 chr10:6019539-6019549 chr10:6019657-6019666 chr10:6019203-6019213
7	MAZ	chr10:6017912-6020277	GM12878	blood:	n/a	chr10:6018960-6018967 chr10:6019504-6019514 chr10:6020067-6020077 chr10:6018249-6018259
8	POLR2A	chr10:6017946-6020199	GM12892	blood:	n/a	n/a
9	EGR1	chr10:6019026-6019416	GM12878	blood:	n/a	chr10:6019262-6019275 chr10:6019263-6019272 chr10:6019261-6019276 chr10:6019263-6019273 chr10:6019262-6019275 chr10:6019263-6019273 chr10:6019262-6019275 chr10:6019257-6019279 chr10:6019263-6019274 chr10:6019261-6019275
10	MAX	chr10:6018661-6020280	A549	lung:	n/a	chr10:6018960-6018967 chr10:6019504-6019514 chr10:6020067-6020077
11	POLR2A	chr10:6018918-6020171	HUVEC	blood vessel:	n/a	n/a
12	MAZ	chr10:6017867-6020332	K562	blood:	n/a	chr10:6018960-6018967 chr10:6019504-6019514 chr10:6020067-6020077 chr10:6018249-6018259
13	MAX	chr10:6018888-6019339	SK-N-SH	brain:	n/a	chr10:6018960-6018967
14	POLR2A	chr10:6018544-6020083	HUVEC	blood vessel:	n/a	n/a
15	MAX	chr10:6018631-6019301	K562	blood:	n/a	chr10:6018960-6018967
16	POLR2A	chr10:6017899-6020220	GM19099	blood:	n/a	n/a
17	E2F6	chr10:6018525-6020213	H1-hESC	embryonic stem cell:	n/a	chr10:6020064-6020074 chr10:6020020-6020029 chr10:6019539-6019549 chr10:6019657-6019666 chr10:6019203-6019213
18	USF2	chr10:6018933-6019325	H1-hESC	embryonic stem cell:	n/a	chr10:6019144-6019160
19	ZNF263	chr10:6018424-6020399	HEK293-T-REx	kidney:	n/a	chr10:6018872-6018881 chr10:6018592-6018601
20	MAZ	chr10:6017702-6020330	IMR90	lung:	n/a	chr10:6018960-6018967 chr10:6019504-6019514 chr10:6020067-6020077 chr10:6018249-6018259
21	BHLHE40	chr10:6018800-6020072	K562	blood:	n/a	chr10:6019144-6019160 chr10:6019658-6019674
22	MYC	chr10:6018768-6019236	K562	blood:	n/a	chr10:6018960-6018967
23	MAX	chr10:6018747-6019401	H1-hESC	embryonic stem cell:	n/a	chr10:6018960-6018967
24	POLR2A	chr10:6018523-6020105	K562	blood:	n/a	n/a
25	UBTF	chr10:6017910-6020402	K562	blood:	n/a	n/a
26	EGR1	chr10:6019061-6019456	MCF-7	breast:	n/a	chr10:6019262-6019275 chr10:6019263-6019272 chr10:6019261-6019276 chr10:6019263-6019273 chr10:6019262-6019275 chr10:6019263-6019273 chr10:6019262-6019275 chr10:6019257-6019279 chr10:6019263-6019274 chr10:6019261-6019275
27	POLR2A	chr10:6018710-6020141	NB4	blood:	n/a	n/a
28	PAX5	chr10:6018904-6020210	GM12892	blood:	n/a	chr10:6019333-6019351
29	E2F6	chr10:6018659-6020120	K562	blood:	n/a	chr10:6020064-6020074 chr10:6020020-6020029 chr10:6019539-6019549 chr10:6019657-6019666 chr10:6019203-6019213
30	RCOR1	chr10:6018419-6020407	IMR90	lung:	n/a	n/a
31	RELA	chr10:6018967-6020339	GM12891	blood:	n/a	n/a
32	MAX	chr10:6018809-6019359	A549	lung:	n/a	chr10:6018960-6018967
33	USF1	chr10:6019065-6019359	K562	blood:	n/a	chr10:6019144-6019160
34	ZNF143	chr10:6019034-6019232	Hela-S3	cervix:	n/a	chr10:6019145-6019155
35	EGR1	chr10:6018787-6020228	HCT-116	colon:	n/a	chr10:6019262-6019275 chr10:6019263-6019272 chr10:6020064-6020077 chr10:6019261-6019276 chr10:6019263-6019273 chr10:6020182-6020195 chr10:6020061-6020075 chr10:6019262-6019275 chr10:6020182-6020195 chr10:6020068-6020078 chr10:6019263-6019273 chr10:6020181-6020196 chr10:6019262-6019275 chr10:6019257-6019279 chr10:6019263-6019274 chr10:6019261-6019275 chr10:6020015-6020028
36	POLR2A	chr10:6018774-6019199	Hela-S3	cervix:	n/a	n/a
37	E2F6	chr10:6019094-6019363	K562	blood:	n/a	chr10:6019203-6019213
38	POLR2A	chr10:6018690-6019988	K562	blood:	n/a	n/a
39	MYC	chr10:6019145-6019220	GM12878	blood:	n/a	n/a
40	POLR2A	chr10:6017805-6020178	GM12878	blood:	n/a	n/a
41	CTCF	chr10:6019162-6019311	GM12892	blood:	n/a	n/a
42	TFAP2C	chr10:6018923-6020111	Hela-S3	cervix:	n/a	n/a
43	POLR2A	chr10:6018797-6020135	GM10847	blood:	n/a	n/a
44	POLR2A	chr10:6019033-6019352	A549	lung:	n/a	n/a
45	HA-E2F1	chr10:6018858-6020329	MCF-7	breast:	n/a	chr10:6020064-6020074 chr10:6020020-6020029 chr10:6019539-6019549 chr10:6019657-6019666 chr10:6019203-6019213
46	MAX	chr10:6018750-6020275	MCF-7	breast:	n/a	chr10:6018960-6018967 chr10:6019504-6019514 chr10:6020067-6020077
47	TCF7L2	chr10:6018578-6020031	HCT-116	colon:	n/a	n/a
48	HDAC2	chr10:6019144-6019480	HepG2	liver:	n/a	n/a
49	POLR2A	chr10:6018751-6019226	GM12892	blood:	n/a	n/a
50	MYC	chr10:6018556-6020188	K562	blood:	n/a	chr10:6018960-6018967 chr10:6019504-6019514 chr10:6020067-6020077

No.	Distal block	Cell Line	Cell type
1	chr10:6018551..6021640-chr10:6130714..6134315,5	MCF-7	breast:
2	chr10:5931810..5933817-chr10:6018457..6020176,2	MCF-7	breast:
3	chr10:5853517..5856397-chr10:6017987..6020051,2	MCF-7	breast:
4	chr10:6018064..6021783-chr10:6129304..6132316,4	K562	blood:
5	chr10:5987354..5989797-chr10:6018047..6020538,2	MCF-7	breast:
6	chr10:6003571..6011080-chr10:6014794..6021269,11	K562	blood:
7	chr10:6018064..6019912-chr10:6129955..6132156,2	K562	blood:
8	chr10:6018278..6019533-chr10:6130531..6131243,3	MCF-7	breast:
9	chr10:5929157..5931311-chr10:6018059..6019673,2	MCF-7	breast:

Variant related genes	Relation type
IL15RA	TF binding region
ENSG00000134452	Chromatin interaction
ENSG00000232807	Chromatin interaction
ENSG00000272764	Chromatin interaction
ENSG00000134461	Chromatin interaction
ENSG00000134470	Chromatin interaction
ENSG00000057608	Chromatin interaction
ENSG00000134453	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4749856	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4749859	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8177656	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8177688	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv1041261	chr10:5962635-6052196	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1050983	chr10:5963921-6052196	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv894810	chr10:6015595-6023466	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv894811	chr10:6016399-6022562	Active TSS Flanking Active TSS Enhancers 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 lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv894812	chr10:6016892-6022562	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv549908	chr10:6018225-6021547	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv549909	chr10:6018248-6020101	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6017400-6019200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr10:6017600-6020800	Active TSS	Colonic Mucosa	Colon
3	chr10:6017800-6019200	Flanking Active TSS	Primary hematopoietic stem cells	blood
4	chr10:6017800-6020200	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr10:6017800-6020400	Active TSS	Brain Anterior Caudate	brain
6	chr10:6017800-6020400	Active TSS	NHDF-Ad	bronchial
7	chr10:6017800-6020800	Active TSS	Lung	lung
8	chr10:6017800-6020800	Active TSS	Rectal Smooth Muscle	rectum
9	chr10:6017800-6021000	Active TSS	Right Atrium	heart
10	chr10:6018000-6019200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr10:6018000-6020200	Active TSS	Primary monocytes fromperipheralblood	blood
12	chr10:6018000-6020200	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr10:6018000-6020200	Active TSS	Stomach Mucosa	stomach
14	chr10:6018000-6020200	Active TSS	Osteobl	bone
15	chr10:6018000-6020400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr10:6018000-6020400	Active TSS	Brain Cingulate Gyrus	brain
17	chr10:6018000-6020400	Active TSS	Brain Hippocampus Middle	brain
18	chr10:6018000-6020400	Active TSS	Small Intestine	intestine
19	chr10:6018000-6020400	Active TSS	GM12878-XiMat	blood
20	chr10:6018000-6020600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr10:6018000-6020600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr10:6018000-6020800	Active TSS	Colon Smooth Muscle	Colon
23	chr10:6018200-6019200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr10:6018200-6019200	Flanking Bivalent TSS/Enh	Dnd41	blood
25	chr10:6018200-6020000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
26	chr10:6018200-6020200	Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr10:6018200-6020200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr10:6018200-6020200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr10:6018200-6020200	Active TSS	Muscle Satellite Cultured Cells	--
30	chr10:6018200-6020200	Active TSS	Fetal Intestine Small	intestine
31	chr10:6018200-6020200	Active TSS	Gastric	stomach
32	chr10:6018200-6020400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr10:6018200-6020400	Active TSS	Ovary	ovary
34	chr10:6018200-6020400	Active TSS	Sigmoid Colon	Sigmoid Colon
35	chr10:6018200-6020600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
36	chr10:6018200-6020600	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr10:6018200-6020600	Active TSS	K562	blood
38	chr10:6018200-6020800	Active TSS	Esophagus	oesophagus
39	chr10:6018200-6020800	Active TSS	Left Ventricle	heart
40	chr10:6018200-6020800	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr10:6018200-6021000	Active TSS	Psoas Muscle	Psoas
42	chr10:6018200-6021000	Active TSS	Right Ventricle	heart
43	chr10:6018400-6019600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr10:6018400-6019600	Active TSS	Fetal Intestine Large	intestine
45	chr10:6018400-6019800	Active TSS	Stomach Smooth Muscle	stomach
46	chr10:6018400-6020200	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr10:6018400-6020200	Active TSS	Fetal Lung	lung
48	chr10:6018400-6020200	Active TSS	Pancreas	Pancrea
49	chr10:6018400-6020200	Bivalent/Poised TSS	HepG2	liver
50	chr10:6018400-6020200	Active TSS	HMEC	breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links