Variant report

Variant	rs6137821
Chromosome Location	chr20:23067799-23067800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr20:23067712-23068113	GM12891	blood:	n/a	chr20:23067719-23067732
2	E2F6	chr20:23067687-23067832	K562	blood:	n/a	n/a
3	POLR2A	chr20:23065132-23067938	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr20:23063275-23068192	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr20:23067637-23067959	HUVEC	blood vessel:	n/a	n/a
6	MAX	chr20:23067510-23067924	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr20:23067334-23068031	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr20:23061862-23067996	HUVEC	blood vessel:	n/a	n/a
9	MYC	chr20:23067593-23067874	HUVEC	blood vessel:	n/a	n/a
10	E2F6	chr20:23067528-23067977	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr20:23058358-23068293	HUVEC	blood vessel:	n/a	n/a
12	SPI1	chr20:23067779-23068094	GM12891	blood:	n/a	n/a
13	SPI1	chr20:23067708-23068075	GM12878	blood:	n/a	chr20:23067719-23067732
14	SPI1	chr20:23067551-23068987	GM12878	blood:	n/a	chr20:23067719-23067732

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr20:23067771-23067821	Caco-2	colon:	n/a
2	chr20:23067752-23067802	PFSK-1	brain:	n/a
3	chr20:23067752-23067802	HepG2	liver:	n/a
4	chr20:23067752-23067802	NHBE	bronchial:	n/a
5	chr20:23067771-23067821	MCF-7	breast:	n/a
6	chr20:23067752-23067802	ovcar-3	ovarian:	n/a
7	chr20:23067752-23067802	H1-hESC	embryonic stem cell:	embryo
8	chr20:23067771-23067821	GM19239	blood:	n/a
9	chr20:23067752-23067802	ProgFib	skin:	n/a
10	chr20:23067752-23067802	HEEpiC	esophagus:	n/a
11	chr20:23067752-23067802	AoSMC	blood vessel:	n/a
12	chr20:23067771-23067821	K562	blood:	n/a
13	chr20:23067771-23067821	HRPEpiC	eye:	n/a
14	chr20:23067771-23067821	SK-N-MC	brain:	n/a
15	chr20:23067771-23067821	T-47D	breast:	n/a
16	chr20:23067771-23067821	SK-N-SH	brain:	n/a
17	chr20:23067752-23067802	HL-60	blood:	n/a
18	chr20:23067771-23067821	HCF	heart:	n/a
19	chr20:23067771-23067821	ProgFib	skin:	n/a
20	chr20:23067752-23067802	HUVEC	blood vessel:	n/a
21	chr20:23067752-23067802	SK-N-SH_RA	brain:	n/a
22	chr20:23067771-23067821	HCPEpiC	choroid plexus:	n/a
23	chr20:23067752-23067802	LNCaP	prostate:	n/a
24	chr20:23067771-23067821	NB4	blood:	n/a
25	chr20:23067752-23067802	IMR90	lung:	fetal
26	chr20:23067771-23067821	HL-60	blood:	n/a
27	chr20:23067771-23067821	U87	brain:	n/a
28	chr20:23067771-23067821	GM12878	blood:	n/a
29	chr20:23067752-23067802	T-47D	breast:	n/a
30	chr20:23067752-23067802	HNPCEpiC	eye:	n/a
31	chr20:23067752-23067802	HEK293	kidney:	embryo
32	chr20:23067752-23067802	NHDF-neo	bronchial:	n/a
33	chr20:23067752-23067802	AG09309	skin:	n/a
34	chr20:23067771-23067821	IMR90	lung:	fetal
35	chr20:23067752-23067802	SK-N-SH	brain:	n/a
36	chr20:23067771-23067821	HRCEpiC	kidney:	n/a
37	chr20:23067752-23067802	HAEpiC	amniotic membrane:	n/a
38	chr20:23067752-23067802	AG10803	skin:	n/a
39	chr20:23067752-23067802	ECC-1	luminal epithelium:	n/a
40	chr20:23067771-23067821	HAEpiC	amniotic membrane:	n/a
41	chr20:23067771-23067821	Jurkat	blood:	n/a
42	chr20:23067752-23067802	SAEC	small airway:	n/a
43	chr20:23067752-23067802	HRCEpiC	kidney:	n/a
44	chr20:23067752-23067802	BE2_C	brain:	n/a
45	chr20:23067771-23067821	NHDF-neo	bronchial:	n/a
46	chr20:23067771-23067821	HPAEpiC	pulmonary alveolar:	n/a
47	chr20:23067771-23067821	PFSK-1	brain:	n/a
48	chr20:23067752-23067802	U87	brain:	n/a
49	chr20:23067752-23067802	MCF-7	breast:	n/a
50	chr20:23067752-23067802	NB4	blood:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:23067329..23069872-chr20:23071485..23073602,2	MCF-7	breast:
2	chr20:23063365..23065588-chr20:23067624..23069134,2	K562	blood:

No data

Variant related genes	Relation type
CD93	TF binding region
CD93	CpG island

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11087413	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs3746731	0.93[CEU][hapmap];0.95[CHB][hapmap];0.92[CHD][hapmap];0.97[GIH][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6076019	0.96[CEU][hapmap];0.93[GIH][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6113935	0.91[EUR][1000 genomes]
rs6132562	1.00[CEU][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758516	chr20:23029404-23173240	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	esv2758789	chr20:23029404-23179604	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv526474	chr20:23065209-23073904	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:23064000-23072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr20:23064200-23072000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr20:23064200-23072400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr20:23064600-23068600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr20:23065000-23067800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr20:23065800-23068400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr20:23066000-23067800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr20:23066000-23075800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr20:23066600-23067800	Flanking Active TSS	Primary B cells from cord blood	blood
10	chr20:23066600-23067800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr20:23066600-23067800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr20:23066600-23068000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr20:23066600-23068200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr20:23066600-23068200	Enhancers	Aorta	Aorta
15	chr20:23066600-23068200	Enhancers	K562	blood
16	chr20:23066600-23068800	Enhancers	GM12878-XiMat	blood
17	chr20:23066800-23068000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
18	chr20:23066800-23068000	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr20:23066800-23068400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr20:23067000-23067800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr20:23067000-23067800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr20:23067000-23067800	Weak transcription	Left Ventricle	heart
23	chr20:23067000-23068200	Enhancers	Colon Smooth Muscle	Colon
24	chr20:23067000-23068400	Weak transcription	Right Ventricle	heart
25	chr20:23067000-23068600	Enhancers	Spleen	Spleen
26	chr20:23067000-23068800	Bivalent Enhancer	Fetal Stomach	stomach
27	chr20:23067000-23069000	Enhancers	Placenta	Placenta
28	chr20:23067000-23069200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr20:23067000-23072000	Weak transcription	Pancreas	Pancrea
30	chr20:23067000-23073800	Weak transcription	Esophagus	oesophagus
31	chr20:23067200-23067800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr20:23067200-23068200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr20:23067200-23069000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr20:23067200-23069000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr20:23067200-23069200	Enhancers	Fetal Muscle Trunk	muscle
36	chr20:23067200-23071400	Weak transcription	Ovary	ovary
37	chr20:23067200-23072200	Weak transcription	Lung	lung
38	chr20:23067400-23067800	Enhancers	H1 Cell Line	embryonic stem cell
39	chr20:23067400-23067800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr20:23067400-23068000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr20:23067400-23068000	Enhancers	Thymus	Thymus
42	chr20:23067400-23068600	Enhancers	HUVEC	blood vessel
43	chr20:23067400-23068800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr20:23067400-23069000	Enhancers	Fetal Thymus	thymus
45	chr20:23067400-23069400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr20:23067400-23069400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr20:23067400-23072400	Weak transcription	Fetal Lung	lung
48	chr20:23067600-23068000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr20:23067600-23068400	Enhancers	Right Atrium	heart
50	chr20:23067600-23068400	Enhancers	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links