Variant report

Variant	rs60060044
Chromosome Location	chr1:174192102-174192103
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174190274..174193024-chr1:174230012..174232463,2	K562	blood:
2	chr1:173794991..173797000-chr1:174191375..174193794,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs55748218	1.00[AMR][1000 genomes]
rs56084735	1.00[AMR][1000 genomes]
rs57246923	1.00[AMR][1000 genomes]
rs57974684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58163532	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59489087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61374922	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74126485	0.91[AFR][1000 genomes]
rs74126489	0.91[AFR][1000 genomes]
rs74126490	0.91[AFR][1000 genomes]
rs74128313	1.00[AMR][1000 genomes]
rs74128314	1.00[AMR][1000 genomes]
rs74128325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128347	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74128376	1.00[AMR][1000 genomes]
rs74128379	1.00[AMR][1000 genomes]
rs74128381	1.00[AMR][1000 genomes]
rs74128387	1.00[AMR][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:93 , 50 per page) page: 1 2

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	chr1:174187000-174199600	Weak transcription	A549	lung
17	chr1:174187000-174217000	Weak transcription	Pancreas	Pancrea
18	chr1:174187400-174200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr1:174187400-174208000	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr1:174187600-174199800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr1:174188400-174202000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:174188600-174202000	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:174188600-174213400	Weak transcription	Spleen	Spleen
24	chr1:174189000-174232000	Weak transcription	HSMM	muscle
25	chr1:174189200-174200200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:174189200-174216800	Weak transcription	Small Intestine	intestine
27	chr1:174189400-174203200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr1:174189400-174203400	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:174189600-174203200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:174189600-174215400	Weak transcription	NH-A	brain
31	chr1:174190200-174193200	Strong transcription	Hela-S3	cervix
32	chr1:174190200-174204200	Weak transcription	Brain Germinal Matrix	brain
33	chr1:174190400-174192600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr1:174190600-174200400	Weak transcription	NHDF-Ad	bronchial
35	chr1:174190800-174192400	Strong transcription	Fetal Thymus	thymus
36	chr1:174191000-174192200	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:174191000-174192200	Genic enhancers	Primary B cells from peripheral blood	blood
38	chr1:174191000-174192600	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
39	chr1:174191000-174192600	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr1:174191000-174215600	Weak transcription	Fetal Brain Male	brain
41	chr1:174191200-174192200	ZNF genes & repeats	HepG2	liver
42	chr1:174191400-174192200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
43	chr1:174191400-174192200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:174191400-174194000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:174191400-174215400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:174191400-174232000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:174191600-174194600	ZNF genes & repeats	GM12878-XiMat	blood
48	chr1:174191600-174198600	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:174191600-174199600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr1:174191600-174200200	Weak transcription	Primary T cells fromperipheralblood	blood

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