Variant report

Variant	rs73036307
Chromosome Location	chr2:179312800-179312801
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:179312787-179312877	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:179312708-179312973	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:179312587-179314225	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:179312746-179313098	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:179312669-179313947	K562	blood:	n/a	n/a
6	POLR2A	chr2:179312766-179314289	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:179312727-179313251	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr2:179312759-179312990	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr2:179312700-179313427	A549	lung:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:179312799-179312849	SK-N-SH	brain:	n/a
2	chr2:179312799-179312849	SK-N-SH_RA	brain:	n/a
3	chr2:179312799-179312849	HAEpiC	amniotic membrane:	n/a
4	chr2:179312799-179312849	A549	lung:	n/a
5	chr2:179312799-179312849	AG10803	skin:	n/a
6	chr2:179312799-179312849	GM19239	blood:	n/a
7	chr2:179312799-179312849	H1-hESC	embryonic stem cell:	embryo
8	chr2:179312799-179312849	SAEC	small airway:	n/a
9	chr2:179312799-179312849	NB4	blood:	n/a
10	chr2:179312799-179312849	T-47D	breast:	n/a
11	chr2:179312799-179312849	HCF	heart:	n/a
12	chr2:179312799-179312849	MCF-7	breast:	n/a
13	chr2:179312799-179312849	Caco-2	colon:	n/a
14	chr2:179312799-179312849	Jurkat	blood:	n/a
15	chr2:179312799-179312849	AG09309	skin:	n/a
16	chr2:179312799-179312849	NHDF-neo	bronchial:	n/a
17	chr2:179312799-179312849	SK-N-MC	brain:	n/a
18	chr2:179312799-179312849	NH-A	brain:	n/a
19	chr2:179312799-179312849	PANC-1	pancreas:	n/a
20	chr2:179312799-179312849	PrEC	prostate:	n/a
21	chr2:179312799-179312849	HepG2	liver:	n/a
22	chr2:179312799-179312849	AG09319	gingival:	n/a
23	chr2:179312799-179312849	ECC-1	luminal epithelium:	n/a
24	chr2:179312799-179312849	AG04449	skin:	fetal
25	chr2:179312799-179312849	BJ	skin:	n/a
26	chr2:179312799-179312849	K562	blood:	n/a
27	chr2:179312799-179312849	Hela-S3	cervix:	n/a
28	chr2:179312799-179312849	HEEpiC	esophagus:	n/a
29	chr2:179312799-179312849	HMEC	breast:	n/a
30	chr2:179312799-179312849	HNPCEpiC	eye:	n/a
31	chr2:179312799-179312849	GM12891	blood:	n/a
32	chr2:179312799-179312849	AoSMC	blood vessel:	n/a
33	chr2:179312799-179312849	HCM	heart:	n/a
34	chr2:179312799-179312849	HRCEpiC	kidney:	n/a
35	chr2:179312799-179312849	U87	brain:	n/a
36	chr2:179312799-179312849	ovcar-3	ovarian:	n/a
37	chr2:179312799-179312849	HRE	kidney:	n/a
38	chr2:179312799-179312849	HL-60	blood:	n/a
39	chr2:179312799-179312849	NT2-D1	testis:	n/a
40	chr2:179312799-179312849	HEK293	kidney:	embryo
41	chr2:179312799-179312849	MCF10A-Er-Src	breast:	n/a
42	chr2:179312799-179312849	BE2_C	brain:	n/a
43	chr2:179312799-179312849	HRPEpiC	eye:	n/a
44	chr2:179312799-179312849	HCT-116	colon:	n/a
45	chr2:179312799-179312849	HUVEC	blood vessel:	n/a
46	chr2:179312799-179312849	GM06990	blood:	n/a
47	chr2:179312799-179312849	HCPEpiC	choroid plexus:	n/a
48	chr2:179312799-179312849	HIPEpiC	eye:	n/a
49	chr2:179312799-179312849	PFSK-1	brain:	n/a
50	chr2:179312799-179312849	SKMC	muscle:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:179310863..179318324-chr2:179338966..179346608,29	K562	blood:
2	chr2:179312406..179314073-chr2:179314243..179316047,2	K562	blood:
3	chr2:179311363..179318324-chr2:179340414..179346232,28	K562	blood:
4	chr2:179312045..179317660-chr2:179337933..179347437,24	MCF-7	breast:
5	chr2:179276988..179281129-chr2:179311895..179317764,7	MCF-7	breast:
6	chr2:179311612..179313781-chr2:179328660..179331380,2	K562	blood:

No data

Variant related genes	Relation type
DFNB59	TF binding region
PRKRA	TF binding region
PRKRA	CpG island
DFNB59	CpG island
ENSG00000116095	Chromatin interaction
ENSG00000079150	Chromatin interaction
ENSG00000223960	Chromatin interaction
ENSG00000180228	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11893643	0.80[AFR][1000 genomes]
rs56986537	0.98[AFR][1000 genomes]
rs73034371	0.80[AFR][1000 genomes]
rs73034393	0.89[AFR][1000 genomes]

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	nsv834467	chr2:179258140-179430965	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv1817469	chr2:179296271-179319391	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv9296	chr2:179308042-179315047	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	esv3458780	chr2:179312167-179315082	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3458779	chr2:179312250-179314994	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
6	esv3445737	chr2:179312275-179314988	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
7	esv3458781	chr2:179312298-179314971	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	esv3458782	chr2:179312312-179314972	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:157 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179279800-179313800	Weak transcription	Stomach Mucosa	stomach
2	chr2:179280200-179314600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:179290200-179312800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr2:179291000-179313200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:179291000-179313400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:179291000-179313600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:179291200-179312800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr2:179291200-179312800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:179291200-179312800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr2:179291200-179313600	Strong transcription	Fetal Thymus	thymus
11	chr2:179291200-179313800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr2:179291400-179312800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr2:179291400-179313400	Strong transcription	HSMM	muscle
14	chr2:179291400-179313600	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr2:179291600-179312800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:179291600-179312800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:179291600-179313200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:179291600-179313400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr2:179291600-179313600	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr2:179291800-179313000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:179291800-179314000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr2:179292000-179314600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:179292400-179312800	Weak transcription	Fetal Heart	heart
24	chr2:179293600-179313000	Strong transcription	Liver	Liver
25	chr2:179293800-179313600	Strong transcription	Adipose Nuclei	Adipose
26	chr2:179293800-179313800	Strong transcription	HUVEC	blood vessel
27	chr2:179294000-179313000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:179294200-179314200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
29	chr2:179295400-179312800	Strong transcription	HepG2	liver
30	chr2:179295400-179313600	Strong transcription	Fetal Intestine Large	intestine
31	chr2:179295400-179314000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:179297000-179313200	Weak transcription	Right Atrium	heart
33	chr2:179298600-179314400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:179299600-179314800	Weak transcription	Small Intestine	intestine
35	chr2:179302000-179313400	Strong transcription	NHDF-Ad	bronchial
36	chr2:179302600-179313000	Strong transcription	Fetal Muscle Leg	muscle
37	chr2:179303200-179313800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:179303200-179313800	Strong transcription	NH-A	brain
39	chr2:179304000-179314200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr2:179304400-179313400	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr2:179304400-179314000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr2:179304600-179313600	Strong transcription	Muscle Satellite Cultured Cells	--
43	chr2:179304600-179314000	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr2:179304600-179314000	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:179304800-179313200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr2:179304800-179313200	Strong transcription	K562	blood
47	chr2:179304800-179314000	Strong transcription	A549	lung
48	chr2:179305000-179312800	Strong transcription	Fetal Kidney	kidney
49	chr2:179305000-179313000	Strong transcription	Brain Anterior Caudate	brain
50	chr2:179305000-179313800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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