Variant report

Variant	rs74128320
Chromosome Location	chr1:174186414-174186415
allele	A/G
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	SMC3	chr1:174185913-174187727	SK-N-SH	brain:	n/a	n/a
2	RAD21	chr1:174186146-174187533	SK-N-SH	brain:	n/a	chr1:174187026-174187045
3	TBL1XR1	chr1:174186321-174186600	K562	blood:	n/a	n/a
4	POLR2A	chr1:174186256-174186958	K562	blood:	n/a	n/a
5	SMC3	chr1:174186399-174187350	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr1:174186308-174187244	Hela-S3	cervix:	n/a	chr1:174187026-174187045
7	CTCF	chr1:174186406-174187437	A549	lung:	n/a	chr1:174187028-174187046 chr1:174187023-174187044

No.	Distal block	Cell Line	Cell type
1	chr1:174178623..174180294-chr1:174184610..174187215,2	K562	blood:
2	chr1:174183666..174187160-chr1:174189120..174193071,3	MCF-7	breast:
3	chr1:174128625..174130655-chr1:174185944..174188643,2	K562	blood:
4	chr1:174186060..174188372-chr1:174193893..174195942,2	K562	blood:
5	chr1:174185151..174188008-chr1:174194442..174198142,3	K562	blood:
6	chr1:173990518..173992302-chr1:174184021..174186918,2	MCF-7	breast:
7	chr1:174182240..174184495-chr1:174184755..174187025,3	K562	blood:
8	chr1:173835190..173837812-chr1:174184090..174186438,2	MCF-7	breast:

Variant related genes	Relation type
RABGAP1L	TF binding region
ENSG00000185278	Chromatin interaction
ENSG00000135870	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000224977	Chromatin interaction
ENSG00000152061	Chromatin interaction
ENSG00000227373	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55687343	0.87[AFR][1000 genomes]
rs55773127	1.00[AFR][1000 genomes]
rs56106938	0.93[AFR][1000 genomes]
rs56179605	0.87[AFR][1000 genomes]
rs56204297	1.00[AFR][1000 genomes]
rs56223691	1.00[AFR][1000 genomes]
rs56713956	0.93[AFR][1000 genomes]
rs57774157	0.93[AFR][1000 genomes]
rs58997380	0.87[AFR][1000 genomes]
rs59753012	0.87[AFR][1000 genomes]
rs60717080	0.93[AFR][1000 genomes]
rs60843796	0.87[AFR][1000 genomes]
rs61077309	1.00[AFR][1000 genomes]
rs61288130	1.00[AFR][1000 genomes]
rs74128305	0.87[AFR][1000 genomes]
rs74128306	0.87[AFR][1000 genomes]
rs74128315	0.85[AFR][1000 genomes]
rs74128317	0.93[AFR][1000 genomes]
rs74128318	0.93[AFR][1000 genomes]
rs74128319	0.93[AFR][1000 genomes]
rs74128321	1.00[AFR][1000 genomes]
rs74128322	0.93[AFR][1000 genomes]
rs74128323	0.93[AFR][1000 genomes]
rs74128324	0.93[AFR][1000 genomes]
rs74128326	0.93[AFR][1000 genomes]
rs74128329	0.93[AFR][1000 genomes]
rs74128334	0.87[AFR][1000 genomes]
rs74128342	0.87[AFR][1000 genomes]
rs74128343	0.87[AFR][1000 genomes]
rs74128344	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174160800-174186600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:174162000-174189600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr1:174172800-174190600	Weak transcription	Fetal Intestine Large	intestine
4	chr1:174172800-174191000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:174173200-174191400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:174174200-174200200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:174175400-174200200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:174176000-174190800	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:174176000-174222400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:174176200-174188800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr1:174176200-174191200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:174176800-174189400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:174176800-174222400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:174177000-174191200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:174177200-174212000	Weak transcription	Lung	lung
16	chr1:174178600-174212200	Weak transcription	Psoas Muscle	Psoas
17	chr1:174178800-174190800	Weak transcription	Thymus	Thymus
18	chr1:174179000-174186600	Weak transcription	Left Ventricle	heart
19	chr1:174179200-174190800	Weak transcription	Dnd41	blood
20	chr1:174179400-174190200	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr1:174179400-174191000	Weak transcription	Fetal Intestine Small	intestine
22	chr1:174184800-174186600	Weak transcription	Aorta	Aorta
23	chr1:174186200-174186600	Enhancers	Fetal Kidney	kidney
24	chr1:174186200-174186800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr1:174186200-174186800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:174186200-174186800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr1:174186200-174186800	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr1:174186200-174186800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:174186200-174186800	Enhancers	Fetal Heart	heart
30	chr1:174186200-174186800	Enhancers	Ovary	ovary
31	chr1:174186200-174187000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr1:174186200-174187200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr1:174186200-174187400	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr1:174186200-174187600	Enhancers	Liver	Liver
35	chr1:174186200-174187600	Enhancers	HepG2	liver
36	chr1:174186200-174187600	Enhancers	K562	blood
37	chr1:174186200-174188200	Enhancers	Hela-S3	cervix
38	chr1:174186200-174188600	Enhancers	Primary B cells from peripheral blood	blood
39	chr1:174186200-174191200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:174186400-174186600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:174186400-174186600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr1:174186400-174186600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr1:174186400-174186800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr1:174186400-174186800	Enhancers	Fetal Stomach	stomach
45	chr1:174186400-174186800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr1:174186400-174187200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr1:174186400-174187600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:174186400-174187600	Enhancers	HMEC	breast
49	chr1:174186400-174188400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:174186400-174189200	Flanking Active TSS	GM12878-XiMat	blood

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