Variant report

Variant	rs73926526
Chromosome Location	chr2:46843053-46843054
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	TEAD4	chr2:46842725-46843851	K562	blood:	n/a	n/a
2	CTCF	chr2:46843020-46843170	WI-38	lung:	n/a	n/a
3	MAX	chr2:46843037-46844575	K562	blood:	n/a	chr2:46844180-46844189
4	EGR1	chr2:46842982-46843511	K562	blood:	n/a	chr2:46843198-46843212
5	MAX	chr2:46842957-46844718	A549	lung:	n/a	chr2:46844180-46844189
6	CTCF	chr2:46842980-46843130	HAc	cerebellar:	n/a	n/a
7	POLR2A	chr2:46842800-46844614	HepG2	liver:	n/a	n/a
8	MXI1	chr2:46842494-46845378	SK-N-SH	brain:	n/a	n/a
9	MAX	chr2:46843026-46844541	K562	blood:	n/a	chr2:46844180-46844189
10	BACH1	chr2:46842868-46844396	H1-hESC	embryonic stem cell:	n/a	n/a
11	HDAC2	chr2:46842951-46843518	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:46843051-46844595	GM12878	blood:	n/a	n/a
13	RAD21	chr2:46843013-46843399	SK-N-SH_RA	brain:	n/a	n/a
14	MTA3	chr2:46843041-46844689	GM12878	blood:	n/a	n/a
15	MYC	chr2:46842867-46843463	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr2:46842777-46845152	PBDE	blood:	n/a	n/a
17	HCFC1	chr2:46842770-46845027	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr2:46842848-46843395	K562	blood:	n/a	n/a
19	GABPA	chr2:46842989-46844941	A549	lung:	n/a	chr2:46844186-46844195 chr2:46844183-46844197 chr2:46844186-46844200 chr2:46844186-46844197
20	NRF1	chr2:46842688-46844693	SK-N-SH	brain:	n/a	chr2:46844186-46844195 chr2:46844183-46844197 chr2:46844186-46844200 chr2:46844186-46844197 chr2:46844185-46844196
21	GATA1	chr2:46842914-46844718	PBDE	blood:	n/a	n/a
22	EGR1	chr2:46842952-46844594	HCT-116	colon:	n/a	chr2:46844187-46844196 chr2:46843198-46843212 chr2:46844308-46844317
23	CTCF	chr2:46843041-46843405	GM12878	blood:	n/a	n/a
24	MYC	chr2:46843043-46844566	K562	blood:	n/a	chr2:46844180-46844189
25	HA-E2F1	chr2:46842991-46844493	MCF-7	breast:	n/a	chr2:46844187-46844196
26	EGR1	chr2:46842955-46843497	K562	blood:	n/a	chr2:46843198-46843212
27	TEAD4	chr2:46842534-46843641	HepG2	liver:	n/a	n/a
28	REST	chr2:46842808-46844873	H1-neurons	neurons:	n/a	n/a
29	HDAC2	chr2:46843013-46843431	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr2:46843030-46844679	H1-neurons	neurons:	n/a	n/a
31	EGR1	chr2:46843033-46844081	MCF-7	breast:	n/a	chr2:46843198-46843212
32	CTCF	chr2:46843040-46843190	NHDF-neo	bronchial:	n/a	n/a
33	IRF1	chr2:46843048-46843432	K562	blood:	n/a	n/a
34	EGR1	chr2:46842820-46844748	HCT-116	colon:	n/a	chr2:46844187-46844196 chr2:46843198-46843212 chr2:46844308-46844317
35	RAD21	chr2:46843047-46843323	SK-N-SH_RA	brain:	n/a	n/a
36	TCF12	chr2:46842997-46844745	A549	lung:	n/a	n/a
37	POLR2A	chr2:46843035-46844601	K562	blood:	n/a	n/a
38	MAX	chr2:46842759-46844778	HepG2	liver:	n/a	chr2:46844180-46844189
39	MXI1	chr2:46843009-46844982	IMR90	lung:	n/a	n/a
40	CTCF	chr2:46842960-46843110	HMEC	breast:	n/a	n/a
41	MYC	chr2:46842776-46844650	K562	blood:	n/a	chr2:46844180-46844189
42	HDAC2	chr2:46842749-46843450	HepG2	liver:	n/a	n/a
43	CREB1	chr2:46842976-46843397	A549	lung:	n/a	n/a
44	BACH1	chr2:46843007-46844119	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:46768345..46771564-chr2:46842518..46844841,5	MCF-7	breast:
2	chr2:46768098..46772914-chr2:46841294..46848059,11	K562	blood:
3	chr2:46806489..46808552-chr2:46842875..46845193,2	MCF-7	breast:
4	chr2:46768338..46773881-chr2:46842376..46848059,6	K562	blood:
5	chr2:46842180..46843861-chr2:46924432..46926384,2	K562	blood:
6	chr2:46745227..46747707-chr2:46842896..46845007,2	K562	blood:
7	chr2:46839258..46842242-chr2:46842497..46844194,2	K562	blood:
8	chr2:46838114..46840779-chr2:46841900..46844194,2	MCF-7	breast:
9	chr2:46770485..46772962-chr2:46842113..46844264,3	MCF-7	breast:

Variant related genes	Relation type
CRIPT	TF binding region
PIGF	TF binding region
ENSG00000171150	Chromatin interaction
ENSG00000250565	Chromatin interaction
ENSG00000250116	Chromatin interaction
ENSG00000119729	Chromatin interaction
ENSG00000151665	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs56127212	1.00[AFR][1000 genomes]
rs60085835	0.83[AFR][1000 genomes]
rs60088761	0.83[AFR][1000 genomes]
rs73926516	1.00[AFR][1000 genomes]
rs73926519	1.00[AFR][1000 genomes]
rs73926524	1.00[AFR][1000 genomes]
rs73926525	0.83[AFR][1000 genomes]
rs73926527	0.83[AFR][1000 genomes]
rs73926530	0.83[AFR][1000 genomes]
rs73926531	0.83[AFR][1000 genomes]
rs73926532	0.83[AFR][1000 genomes]
rs73926533	0.83[AFR][1000 genomes]
rs73926534	1.00[AFR][1000 genomes]
rs73926535	0.83[AFR][1000 genomes]
rs73926536	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
8	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
9	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46807800-46843200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr2:46829800-46843200	Weak transcription	Ovary	ovary
3	chr2:46833600-46843200	Weak transcription	Colon Smooth Muscle	Colon
4	chr2:46838600-46843200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr2:46842400-46844000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr2:46842600-46843200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:46842600-46843200	Enhancers	Fetal Lung	lung
8	chr2:46842600-46843200	Flanking Active TSS	A549	lung
9	chr2:46842600-46843200	Flanking Active TSS	HepG2	liver
10	chr2:46842600-46843600	Flanking Active TSS	Osteobl	bone
11	chr2:46842600-46844000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr2:46842600-46844000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:46842600-46845000	Active TSS	Fetal Intestine Large	intestine
14	chr2:46842600-46845400	Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr2:46842600-46845600	Active TSS	Aorta	Aorta
16	chr2:46842800-46843200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:46842800-46843200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
18	chr2:46842800-46843200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:46842800-46843200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:46842800-46843200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr2:46842800-46843200	Active TSS	Liver	Liver
22	chr2:46842800-46843200	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr2:46842800-46843200	Enhancers	Fetal Muscle Leg	muscle
24	chr2:46842800-46843200	Active TSS	Rectal Smooth Muscle	rectum
25	chr2:46842800-46843200	Enhancers	Spleen	Spleen
26	chr2:46842800-46843200	Enhancers	HSMMtube	muscle
27	chr2:46842800-46843400	Flanking Active TSS	NHEK	skin
28	chr2:46842800-46843600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr2:46842800-46843600	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr2:46842800-46843600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:46842800-46843600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr2:46842800-46843600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr2:46842800-46843600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:46842800-46843600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr2:46842800-46843600	Flanking Active TSS	Fetal Heart	heart
36	chr2:46842800-46843600	Flanking Active TSS	Dnd41	blood
37	chr2:46842800-46843600	Flanking Active TSS	HUVEC	blood vessel
38	chr2:46842800-46843800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:46842800-46843800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr2:46842800-46843800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr2:46842800-46843800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr2:46842800-46844000	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:46842800-46844000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr2:46842800-46844600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:46842800-46844800	Active TSS	Duodenum Mucosa	Duodenum
46	chr2:46842800-46844800	Active TSS	Fetal Brain Female	brain
47	chr2:46842800-46845000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
48	chr2:46842800-46845000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr2:46842800-46845000	Active TSS	Pancreatic Islets	Pancreatic Islet
50	chr2:46842800-46845200	Active TSS	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links