Variant report

Variant	rs74128324
Chromosome Location	chr1:174199867-174199868
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA2	chr1:174199515-174199949	K562	blood:	n/a	n/a
2	TRIM28	chr1:174199502-174199992	K562	blood:	n/a	n/a
3	PML	chr1:174199445-174200003	K562	blood:	n/a	n/a
4	TAL1	chr1:174199455-174200029	K562	blood:	n/a	n/a
5	CEBPD	chr1:174199513-174200039	K562	blood:	n/a	n/a
6	JUND	chr1:174199582-174199898	K562	blood:	n/a	n/a
7	PML	chr1:174199531-174199938	K562	blood:	n/a	n/a
8	STAT5A	chr1:174199433-174200029	K562	blood:	n/a	n/a
9	RCOR1	chr1:174199541-174199882	K562	blood:	n/a	n/a
10	RCOR1	chr1:174199489-174199885	K562	blood:	n/a	n/a
11	POLR2A	chr1:174199541-174199962	K562	blood:	n/a	n/a
12	TBL1XR1	chr1:174199562-174199929	K562	blood:	n/a	n/a
13	GATA1	chr1:174199532-174199965	PBDE	blood:	n/a	n/a
14	BHLHE40	chr1:174199609-174199894	K562	blood:	n/a	n/a
15	ATF1	chr1:174199566-174199927	K562	blood:	n/a	n/a
16	TEAD4	chr1:174199359-174200084	K562	blood:	n/a	n/a
17	MAFK	chr1:174199764-174199892	K562	blood:	n/a	n/a
18	CEBPD	chr1:174199485-174200047	K562	blood:	n/a	n/a
19	NR2F2	chr1:174199471-174200007	K562	blood:	n/a	n/a
20	GATA2	chr1:174199462-174199997	K562	blood:	n/a	n/a
21	ZMIZ1	chr1:174199697-174199897	K562	blood:	n/a	n/a
22	IRF1	chr1:174199592-174199961	K562	blood:	n/a	n/a
23	EP300	chr1:174199553-174199899	K562	blood:	n/a	n/a
24	TEAD4	chr1:174199426-174200044	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174193716..174196579-chr1:174196717..174200011,3	MCF-7	breast:

No data

Variant related genes	Relation type
RABGAP1L	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs55687343	0.81[AFR][1000 genomes]
rs55773127	0.93[AFR][1000 genomes]
rs56106938	1.00[AFR][1000 genomes]
rs56179605	0.81[AFR][1000 genomes]
rs56204297	0.93[AFR][1000 genomes]
rs56223691	0.93[AFR][1000 genomes]
rs56713956	1.00[AFR][1000 genomes]
rs57774157	1.00[AFR][1000 genomes]
rs58997380	0.81[AFR][1000 genomes]
rs59753012	0.81[AFR][1000 genomes]
rs60717080	1.00[AFR][1000 genomes]
rs60843796	0.81[AFR][1000 genomes]
rs61077309	0.93[AFR][1000 genomes]
rs61288130	0.93[AFR][1000 genomes]
rs74128305	0.81[AFR][1000 genomes]
rs74128306	0.81[AFR][1000 genomes]
rs74128317	1.00[AFR][1000 genomes]
rs74128318	1.00[AFR][1000 genomes]
rs74128319	1.00[AFR][1000 genomes]
rs74128320	0.93[AFR][1000 genomes]
rs74128321	0.93[AFR][1000 genomes]
rs74128322	1.00[AFR][1000 genomes]
rs74128323	1.00[AFR][1000 genomes]
rs74128326	1.00[AFR][1000 genomes]
rs74128329	1.00[AFR][1000 genomes]
rs74128334	0.81[AFR][1000 genomes]
rs74128342	0.81[AFR][1000 genomes]
rs74128343	0.81[AFR][1000 genomes]
rs74128344	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv470746	chr1:174150850-174469905	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv1001803	chr1:174176164-174367747	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv1008993	chr1:174180019-174331358	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	nsv528675	chr1:174195629-174219398	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
12	nsv872553	chr1:174195629-174373379	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174174200-174200200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:174175400-174200200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:174176000-174222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr1:174176800-174222400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:174177200-174212000	Weak transcription	Lung	lung
6	chr1:174178600-174212200	Weak transcription	Psoas Muscle	Psoas
7	chr1:174186600-174216600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr1:174186800-174200400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:174186800-174200600	Weak transcription	Fetal Stomach	stomach
10	chr1:174186800-174200600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:174186800-174208000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:174186800-174212800	Weak transcription	Fetal Heart	heart
13	chr1:174186800-174213200	Weak transcription	Ovary	ovary
14	chr1:174186800-174217000	Weak transcription	Brain Angular Gyrus	brain
15	chr1:174186800-174232000	Weak transcription	HSMMtube	muscle
16	chr1:174187000-174217000	Weak transcription	Pancreas	Pancrea
17	chr1:174187400-174200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr1:174187400-174208000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:174188400-174202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:174188600-174202000	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:174188600-174213400	Weak transcription	Spleen	Spleen
22	chr1:174189000-174232000	Weak transcription	HSMM	muscle
23	chr1:174189200-174200200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:174189200-174216800	Weak transcription	Small Intestine	intestine
25	chr1:174189400-174203200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr1:174189400-174203400	Weak transcription	Brain Hippocampus Middle	brain
27	chr1:174189600-174203200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:174189600-174215400	Weak transcription	NH-A	brain
29	chr1:174190200-174204200	Weak transcription	Brain Germinal Matrix	brain
30	chr1:174190600-174200400	Weak transcription	NHDF-Ad	bronchial
31	chr1:174191000-174215600	Weak transcription	Fetal Brain Male	brain
32	chr1:174191400-174215400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:174191400-174232000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:174191600-174200200	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr1:174191600-174200200	Weak transcription	Fetal Intestine Large	intestine
36	chr1:174191600-174200400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:174191600-174200400	Weak transcription	Left Ventricle	heart
38	chr1:174191600-174200600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr1:174191600-174200600	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr1:174191600-174200600	Weak transcription	Aorta	Aorta
41	chr1:174191600-174208600	Weak transcription	Pancreatic Islets	Pancreatic Islet
42	chr1:174191600-174213400	Weak transcription	Thymus	Thymus
43	chr1:174191600-174232200	Weak transcription	Brain Substantia Nigra	brain
44	chr1:174191800-174200200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr1:174191800-174200600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr1:174191800-174200800	Weak transcription	Esophagus	oesophagus
47	chr1:174191800-174208000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr1:174191800-174215600	Weak transcription	Brain Anterior Caudate	brain
49	chr1:174192000-174200200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:174192000-174200200	Weak transcription	Adipose Nuclei	Adipose

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