Variant report

Variant	rs193106575
Chromosome Location	chr6:49430631-49430632
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:174)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:174 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr6:49430563-49431533	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr6:49430346-49431460	GM12878	blood:	n/a	n/a
3	SRF	chr6:49430618-49431481	HCT-116	colon:	n/a	n/a
4	MAZ	chr6:49430336-49431604	K562	blood:	n/a	n/a
5	MYBL2	chr6:49430441-49431520	HepG2	liver:	n/a	n/a
6	E2F6	chr6:49430625-49431640	K562	blood:	n/a	chr6:49431112-49431123 chr6:49431109-49431126 chr6:49430905-49430917 chr6:49431109-49431126
7	MAX	chr6:49430539-49431407	HCT-116	colon:	n/a	n/a
8	SIN3A	chr6:49430267-49432021	H1-hESC	embryonic stem cell:	n/a	n/a
9	EGR1	chr6:49430482-49431413	HCT-116	colon:	n/a	chr6:49430906-49430920 chr6:49431082-49431091 chr6:49430963-49430977
10	POLR2A	chr6:49430553-49431480	GM12892	blood:	n/a	n/a
11	POLR2A	chr6:49430241-49431637	PFSK-1	brain:	n/a	n/a
12	POLR2A	chr6:49430572-49431397	GM12892	blood:	n/a	n/a
13	RCOR1	chr6:49430496-49431255	HepG2	liver:	n/a	n/a
14	IRF1	chr6:49430592-49431382	K562	blood:	n/a	n/a
15	HEY1	chr6:49430505-49431732	K562	blood:	n/a	n/a
16	POLR2A	chr6:49430612-49431409	Raji	blood:	n/a	n/a
17	REST	chr6:49430106-49431541	H1-neurons	neurons:	n/a	chr6:49430936-49430949 chr6:49430509-49430529 chr6:49430515-49430529
18	CHD1	chr6:49430423-49431181	GM12878	blood:	n/a	n/a
19	HCFC1	chr6:49430429-49431502	K562	blood:	n/a	n/a
20	SIN3AK20	chr6:49430569-49431581	MCF-7	breast:	n/a	n/a
21	TEAD4	chr6:49430418-49431423	K562	blood:	n/a	n/a
22	HCFC1	chr6:49429845-49431540	Hela-S3	cervix:	n/a	n/a
23	RFX5	chr6:49430011-49431401	Hela-S3	cervix:	n/a	n/a
24	MAX	chr6:49430592-49431382	MCF-7	breast:	n/a	n/a
25	BRCA1	chr6:49430565-49431166	HepG2	liver:	n/a	n/a
26	MXI1	chr6:49429642-49431594	GM12878	blood:	n/a	n/a
27	POLR2A	chr6:49429912-49431522	IMR90	lung:	n/a	n/a
28	POLR2A	chr6:49430591-49431580	MCF-7	breast:	n/a	n/a
29	POLR2A	chr6:49430582-49431390	HL-60	blood:	n/a	n/a
30	POLR2A	chr6:49430603-49431727	K562	blood:	n/a	n/a
31	POLR2A	chr6:49430621-49431316	HepG2	liver:	n/a	n/a
32	SRF	chr6:49430567-49431443	HCT-116	colon:	n/a	n/a
33	POLR2A	chr6:49430600-49431280	MCF-7	breast:	n/a	n/a
34	POLR2A	chr6:49430470-49431555	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr6:49430541-49431471	U87	brain:	n/a	n/a
36	MYC	chr6:49430378-49431732	K562	blood:	n/a	n/a
37	POLR2A	chr6:49430585-49431300	HUVEC	blood vessel:	n/a	n/a
38	SIN3AK20	chr6:49430616-49431484	HepG2	liver:	n/a	n/a
39	POLR2A	chr6:49430177-49432089	HepG2	liver:	n/a	n/a
40	ZKSCAN1	chr6:49430526-49431360	Hela-S3	cervix:	n/a	n/a
41	REST	chr6:49430615-49431375	HepG2	liver:	n/a	chr6:49430936-49430949
42	POLR2A	chr6:49430366-49431683	PFSK-1	brain:	n/a	n/a
43	ELK1	chr6:49430313-49431590	Hela-S3	cervix:	n/a	n/a
44	MAX	chr6:49430213-49431476	K562	blood:	n/a	n/a
45	POLR2A	chr6:49430442-49431501	K562	blood:	n/a	n/a
46	SIN3AK20	chr6:49430365-49431458	K562	blood:	n/a	n/a
47	POLR2A	chr6:49430432-49431396	NB4	blood:	n/a	n/a
48	POLR2A	chr6:49430603-49431409	GM12892	blood:	n/a	n/a
49	TBP	chr6:49430351-49431531	HepG2	liver:	n/a	n/a
50	MAZ	chr6:49430148-49431516	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:49430596-49430646	HepG2	liver:	n/a
2	chr6:49430596-49430646	SAEC	small airway:	n/a
3	chr6:49430596-49430646	LNCaP	prostate:	n/a
4	chr6:49430596-49430646	PFSK-1	brain:	n/a
5	chr6:49430596-49430646	IMR90	lung:	fetal
6	chr6:49430596-49430646	ECC-1	luminal epithelium:	n/a
7	chr6:49430596-49430646	GM19239	blood:	n/a
8	chr6:49430596-49430646	Caco-2	colon:	n/a
9	chr6:49430596-49430646	Hela-S3	cervix:	n/a
10	chr6:49430596-49430646	Jurkat	blood:	n/a
11	chr6:49430596-49430646	HEK293	kidney:	embryo
12	chr6:49430596-49430646	PrEC	prostate:	n/a
13	chr6:49430596-49430646	HCPEpiC	choroid plexus:	n/a
14	chr6:49430596-49430646	NT2-D1	testis:	n/a
15	chr6:49430596-49430646	HRE	kidney:	n/a
16	chr6:49430596-49430646	U87	brain:	n/a
17	chr6:49430596-49430646	HUVEC	blood vessel:	n/a
18	chr6:49430596-49430646	SK-N-SH_RA	brain:	n/a
19	chr6:49430596-49430646	HL-60	blood:	n/a
20	chr6:49430596-49430646	AG10803	skin:	n/a
21	chr6:49430596-49430646	ovcar-3	ovarian:	n/a
22	chr6:49430596-49430646	HRPEpiC	eye:	n/a
23	chr6:49430596-49430646	T-47D	breast:	n/a
24	chr6:49430596-49430646	SKMC	muscle:	n/a
25	chr6:49430596-49430646	NHDF-neo	bronchial:	n/a
26	chr6:49430596-49430646	K562	blood:	n/a
27	chr6:49430596-49430646	CMK	blood:	n/a
28	chr6:49430596-49430646	AG04450	lung:	fetal
29	chr6:49430596-49430646	HCM	heart:	n/a
30	chr6:49430596-49430646	BE2_C	brain:	n/a
31	chr6:49430596-49430646	HPAEpiC	pulmonary alveolar:	n/a
32	chr6:49430596-49430646	H1-hESC	embryonic stem cell:	embryo
33	chr6:49430596-49430646	HCF	heart:	n/a
34	chr6:49430596-49430646	HMEC	breast:	n/a
35	chr6:49430596-49430646	GM12878	blood:	n/a
36	chr6:49430596-49430646	AG09309	skin:	n/a
37	chr6:49430596-49430646	A549	lung:	n/a
38	chr6:49430596-49430646	GM12892	blood:	n/a
39	chr6:49430596-49430646	AG09319	gingival:	n/a
40	chr6:49430596-49430646	HIPEpiC	eye:	n/a
41	chr6:49430596-49430646	MCF-7	breast:	n/a
42	chr6:49430596-49430646	SK-N-MC	brain:	n/a
43	chr6:49430596-49430646	HAEpiC	amniotic membrane:	n/a
44	chr6:49430596-49430646	NHBE	bronchial:	n/a
45	chr6:49430596-49430646	HNPCEpiC	eye:	n/a
46	chr6:49430596-49430646	BJ	skin:	n/a
47	chr6:49430596-49430646	GM12891	blood:	n/a
48	chr6:49430596-49430646	NB4	blood:	n/a
49	chr6:49430596-49430646	HCT-116	colon:	n/a
50	chr6:49430596-49430646	NH-A	brain:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:65596663..65597464-chr6:49430249..49430946,2	Hela-S3	cervix:
2	chr6:49429949..49432434-chr6:49603239..49605832,3	K562	blood:
3	chr6:20401677..20404627-chr6:49430582..49432502,2	K562	blood:
4	chr6:49419838..49421598-chr6:49428414..49430900,2	K562	blood:
5	chr6:49428075..49430840-chr6:49629508..49632761,3	K562	blood:
6	chr6:49429390..49432411-chr6:49516710..49519961,3	MCF-7	breast:
7	chr6:49428409..49430841-chr6:49452599..49454961,2	K562	blood:

No data

Variant related genes	Relation type
CENPQ	TF binding region
CENPQ	CpG island
ENSG00000112242	Chromatin interaction
ENSG00000197261	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000112077	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024959	chr6:49290141-49652124	Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1021136	chr6:49295037-49631278	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv603081	chr6:49421241-49446233	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv603082	chr6:49421241-49446509	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv603083	chr6:49429706-49446233	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
6	nsv603084	chr6:49429706-49446509	Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv603085	chr6:49429706-49450341	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 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	chr6:49429000-49434200	Active TSS	GM12878-XiMat	blood
2	chr6:49429200-49430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr6:49429200-49432000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr6:49429400-49430800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr6:49429400-49432000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:49429400-49432000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:49429400-49432200	Active TSS	Ovary	ovary
8	chr6:49429400-49432200	Active TSS	Right Atrium	heart
9	chr6:49429600-49430800	Flanking Active TSS	Primary hematopoietic stem cells	blood
10	chr6:49429600-49430800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr6:49429600-49430800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr6:49429600-49431600	Active TSS	Brain Cingulate Gyrus	brain
13	chr6:49429600-49431600	Active TSS	Brain Substantia Nigra	brain
14	chr6:49429600-49431600	Active TSS	Stomach Smooth Muscle	stomach
15	chr6:49429600-49431800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr6:49429600-49431800	Active TSS	Psoas Muscle	Psoas
17	chr6:49429600-49431800	Active TSS	Right Ventricle	heart
18	chr6:49429600-49432000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr6:49429600-49432000	Active TSS	Colonic Mucosa	Colon
20	chr6:49429600-49432000	Active TSS	NHDF-Ad	bronchial
21	chr6:49429600-49432200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr6:49429600-49432200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:49429600-49432200	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr6:49429600-49432200	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr6:49429600-49432200	Active TSS	Fetal Kidney	kidney
26	chr6:49429600-49432200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr6:49429600-49432200	Active TSS	NHLF	lung
28	chr6:49429800-49431400	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr6:49429800-49431600	Active TSS	Aorta	Aorta
30	chr6:49429800-49431800	Active TSS	Left Ventricle	heart
31	chr6:49429800-49432000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:49429800-49432000	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:49429800-49432000	Active TSS	HSMMtube	muscle
34	chr6:49429800-49432400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:49430000-49430800	Flanking Active TSS	Primary B cells from cord blood	blood
36	chr6:49430000-49431200	Active TSS	Thymus	Thymus
37	chr6:49430000-49431400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
38	chr6:49430000-49431400	Active TSS	Fetal Muscle Leg	muscle
39	chr6:49430000-49431400	Active TSS	Fetal Stomach	stomach
40	chr6:49430000-49431600	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr6:49430000-49431600	Active TSS	Fetal Intestine Small	intestine
42	chr6:49430000-49431600	Active TSS	Rectal Smooth Muscle	rectum
43	chr6:49430000-49431800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:49430000-49431800	Active TSS	Fetal Intestine Large	intestine
45	chr6:49430000-49432000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr6:49430000-49432000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:49430000-49432000	Active TSS	Fetal Muscle Trunk	muscle
48	chr6:49430000-49432000	Active TSS	Fetal Thymus	thymus
49	chr6:49430000-49432200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:49430000-49432200	Active TSS	Fetal Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links