Variant report

Variant	rs587693062
Chromosome Location	chr1:144594227-144594228
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr1:144594140-144594290	HPF	lung:	n/a	n/a
2	MYC	chr1:144593959-144594279	NB4	blood:	n/a	chr1:144594065-144594075
3	RUNX3	chr1:144594191-144594653	GM12878	blood:	n/a	n/a
4	SIN3AK20	chr1:144593249-144594550	HepG2	liver:	n/a	n/a
5	MTA3	chr1:144594024-144594358	GM12878	blood:	n/a	n/a
6	TCF12	chr1:144593306-144594596	GM12878	blood:	n/a	chr1:144593310-144593320
7	NR3C1	chr1:144593200-144594430	A549	lung:	n/a	n/a
8	NFIC	chr1:144593210-144594787	GM12878	blood:	n/a	n/a
9	EBF1	chr1:144594089-144594720	GM12878	blood:	n/a	n/a
10	MAX	chr1:144593572-144594609	Hela-S3	cervix:	n/a	chr1:144594065-144594075
11	E2F1	chr1:144593573-144594302	Hela-S3	cervix:	n/a	n/a
12	NR2F2	chr1:144594217-144594919	K562	blood:	n/a	n/a
13	EBF1	chr1:144593217-144594635	GM12878	blood:	n/a	n/a
14	POLR2A	chr1:144593192-144594587	A549	lung:	n/a	n/a
15	PAX5	chr1:144593099-144594758	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:144593081-144594757	Hela-S3	cervix:	n/a	n/a
17	TCF3	chr1:144593186-144594509	GM12878	blood:	n/a	n/a
18	MXI1	chr1:144593924-144594545	Hela-S3	cervix:	n/a	n/a
19	BCL11A	chr1:144594216-144594609	GM12878	blood:	n/a	n/a
20	YY1	chr1:144594094-144594528	A549	lung:	n/a	n/a
21	SP1	chr1:144593133-144594397	A549	lung:	n/a	n/a
22	POLR2A	chr1:144593263-144594713	GM12892	blood:	n/a	n/a
23	POLR2A	chr1:144593170-144594713	PANC-1	pancreas:	n/a	n/a
24	TAF1	chr1:144593232-144594397	HepG2	liver:	n/a	n/a
25	JUND	chr1:144594059-144594592	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:144593577-144594507	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr1:144594078-144594741	U87	brain:	n/a	n/a
28	SIN3AK20	chr1:144593512-144594421	PANC-1	pancreas:	n/a	n/a
29	FOSL2	chr1:144594141-144594634	HepG2	liver:	n/a	n/a
30	TAF1	chr1:144593194-144594443	A549	lung:	n/a	n/a
31	POLR2A	chr1:144593161-144594707	GM12891	blood:	n/a	n/a
32	HA-E2F1	chr1:144593513-144594533	MCF-7	breast:	n/a	n/a
33	PBX3	chr1:144594070-144594228	GM12878	blood:	n/a	n/a
34	HEY1	chr1:144593216-144594236	K562	blood:	n/a	n/a
35	SMARCB1	chr1:144593687-144594483	Hela-S3	cervix:	n/a	n/a
36	SP1	chr1:144594067-144594662	GM12878	blood:	n/a	n/a
37	POLR2A	chr1:144593176-144594807	GM12878	blood:	n/a	n/a
38	BATF	chr1:144594146-144594619	GM12878	blood:	n/a	n/a
39	POLR2A	chr1:144593523-144594597	Raji	blood:	n/a	n/a
40	MXI1	chr1:144593523-144594674	IMR90	lung:	n/a	n/a
41	PAX5	chr1:144594035-144594636	GM12878	blood:	n/a	n/a
42	POLR2A	chr1:144593123-144594717	PANC-1	pancreas:	n/a	n/a
43	POLR2A	chr1:144593111-144594768	SK-N-SH	brain:	n/a	n/a
44	POLR2A	chr1:144594188-144594642	HUVEC	blood vessel:	n/a	n/a
45	POLR2A	chr1:144593312-144594281	ProgFib	skin:	n/a	n/a
46	TAF1	chr1:144594209-144594720	GM12891	blood:	n/a	n/a
47	POLR2A	chr1:144593334-144594751	GM12892	blood:	n/a	n/a
48	POLR2A	chr1:144593274-144594521	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:144593252-144594550	A549	lung:	n/a	n/a
50	CHD2	chr1:144593678-144594302	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:144589128..144591973-chr1:144594157..144597024,2	MCF-7	breast:
2	chr1:144594107..144594639-chr1:148556298..148556816,2	Hela-S3	cervix:
3	chr1:144593744..144594609-chr1:148555862..148556622,3	HCT-116	colon:
4	chr1:144594105..144596972-chr1:148555192..148558576,3	MCF-7	breast:
5	chr1:144593716..144594289-chr1:148555892..148556883,2	MCF-7	breast:
6	chr1:144593856..144595655-chr1:148555098..148556798,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000225241	TF binding region
ENSG00000243452	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012104	chr1:144007818-144682096	Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	260 gene(s)	inside rSNPs	diseases
2	nsv1006330	chr1:144007818-144849544	Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	262 gene(s)	inside rSNPs	diseases
3	nsv1001989	chr1:144007818-144873327	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
4	nsv997949	chr1:144007818-144876884	Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
5	nsv1010670	chr1:144007818-144880405	Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
6	nsv1010163	chr1:144007818-144884322	Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	265 gene(s)	inside rSNPs	diseases
7	nsv1014985	chr1:144007818-144949963	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv1002373	chr1:144013582-144682096	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	258 gene(s)	inside rSNPs	diseases
9	nsv1007748	chr1:144015838-144682096	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	258 gene(s)	inside rSNPs	diseases
10	nsv524682	chr1:144034888-144617179	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	257 gene(s)	inside rSNPs	diseases
11	esv1828275	chr1:144274482-145098718	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
12	nsv1014641	chr1:144337917-144880405	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
13	nsv998833	chr1:144337917-144885032	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	259 gene(s)	inside rSNPs	diseases
14	nsv1009682	chr1:144471974-144876884	Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
15	nsv1008142	chr1:144471974-144880405	Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	255 gene(s)	inside rSNPs	diseases
16	nsv1001693	chr1:144471974-145290292	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	311 gene(s)	inside rSNPs	diseases
17	nsv831292	chr1:144506093-144613511	Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	248 gene(s)	inside rSNPs	diseases
18	nsv831303	chr1:144523643-144617215	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	248 gene(s)	inside rSNPs	diseases
19	nsv872206	chr1:144544101-144881389	Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
20	nsv872207	chr1:144560355-144859086	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh 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 lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
21	nsv872208	chr1:144560355-144875799	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
22	nsv946242	chr1:144588546-144622111	Weak transcription Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	esv1832561	chr1:144590080-144830258	Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
24	esv3492919	chr1:144593671-144595741	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
25	esv3492920	chr1:144593820-144595636	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr1:144593000-144595400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:144593200-144594400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr1:144593200-144594400	Enhancers	Fetal Brain Male	brain
4	chr1:144593200-144594600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
5	chr1:144593200-144594600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:144593200-144594600	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr1:144593200-144594600	Active TSS	Primary T cells from cord blood	blood
8	chr1:144593200-144594600	Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr1:144593200-144594600	Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr1:144593200-144594600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:144593200-144594600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:144593200-144594600	Active TSS	Colonic Mucosa	Colon
13	chr1:144593200-144594600	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr1:144593200-144594600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
15	chr1:144593200-144594600	Active TSS	Placenta Amnion	Placenta Amnion
16	chr1:144593200-144594600	Active TSS	Stomach Smooth Muscle	stomach
17	chr1:144593200-144594600	Active TSS	HUVEC	blood vessel
18	chr1:144593200-144594800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:144593200-144594800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:144593200-144594800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
21	chr1:144593200-144594800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr1:144593200-144594800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:144593200-144594800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:144593200-144594800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr1:144593200-144594800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:144593200-144594800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:144593200-144594800	Active TSS	Muscle Satellite Cultured Cells	--
28	chr1:144593200-144594800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:144593200-144594800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:144593200-144594800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:144593200-144594800	Active TSS	Liver	Liver
32	chr1:144593200-144594800	Active TSS	Brain Angular Gyrus	brain
33	chr1:144593200-144594800	Active TSS	Brain Anterior Caudate	brain
34	chr1:144593200-144594800	Active TSS	Brain Cingulate Gyrus	brain
35	chr1:144593200-144594800	Active TSS	Brain Germinal Matrix	brain
36	chr1:144593200-144594800	Active TSS	Brain Hippocampus Middle	brain
37	chr1:144593200-144594800	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr1:144593200-144594800	Active TSS	Brain Substantia Nigra	brain
39	chr1:144593200-144594800	Active TSS	Colon Smooth Muscle	Colon
40	chr1:144593200-144594800	Active TSS	Fetal Brain Female	brain
41	chr1:144593200-144594800	Active TSS	Fetal Intestine Large	intestine
42	chr1:144593200-144594800	Active TSS	Fetal Intestine Small	intestine
43	chr1:144593200-144594800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr1:144593200-144594800	Active TSS	Fetal Muscle Trunk	muscle
45	chr1:144593200-144594800	Active TSS	Fetal Stomach	stomach
46	chr1:144593200-144594800	Active TSS	Left Ventricle	heart
47	chr1:144593200-144594800	Active TSS	Ovary	ovary
48	chr1:144593200-144594800	Active TSS	Psoas Muscle	Psoas
49	chr1:144593200-144594800	Active TSS	Rectal Mucosa Donor 29	rectum
50	chr1:144593200-144594800	Active TSS	Rectal Smooth Muscle	rectum

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links