Variant report

Variant	rs1633921
Chromosome Location	chr19:35695200-35695201
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:35694392..35696589-chr19:35707373..35710054,2	K562	blood:
2	chr19:35690573..35693790-chr19:35694961..35698637,4	K562	blood:
3	chr19:35686366..35688378-chr19:35693649..35696328,2	K562	blood:
4	chr19:35647531..35650498-chr19:35693882..35696047,2	K562	blood:
5	chr19:35694470..35696159-chr19:35738166..35740391,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105699	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1633917	0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1633919	0.92[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1633920	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1687988	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1687989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1687990	0.80[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.85[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs916694	0.86[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv2470	chr19:35655281-35702565	Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1060100	chr19:35658505-36170042	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
4	nsv543993	chr19:35658505-36170042	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1633921	CAPN12	cis	cerebellum	SCAN

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:35691800-35696200	Weak transcription	Gastric	stomach
2	chr19:35691800-35697000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr19:35692000-35696800	Enhancers	H1 Cell Line	embryonic stem cell
4	chr19:35692200-35696000	Weak transcription	Stomach Mucosa	stomach
5	chr19:35693400-35696400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:35693400-35697000	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr19:35693400-35699400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:35693400-35707000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr19:35693600-35696200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr19:35693600-35696800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr19:35693600-35697000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
12	chr19:35693600-35697000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr19:35693600-35698800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr19:35693600-35701800	Weak transcription	Right Atrium	heart
15	chr19:35693800-35696000	Enhancers	K562	blood
16	chr19:35693800-35697200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:35694000-35695200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:35694000-35697600	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr19:35694000-35704400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr19:35694200-35696600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr19:35694200-35696800	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr19:35694200-35697200	Enhancers	Primary B cells from peripheral blood	blood
23	chr19:35694200-35697400	Enhancers	Primary T cells from cord blood	blood
24	chr19:35694200-35699200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr19:35694200-35708200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr19:35694400-35695200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr19:35694400-35695400	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr19:35694400-35696600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr19:35694400-35697000	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr19:35694400-35697400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr19:35694600-35697200	Enhancers	Primary B cells from cord blood	blood
32	chr19:35694600-35697200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr19:35694600-35699200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:35694800-35695200	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr19:35694800-35695400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:35694800-35698000	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr19:35694800-35699000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr19:35694800-35700200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr19:35695000-35695200	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr19:35695000-35696000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr19:35695000-35697200	Enhancers	Spleen	Spleen
42	chr19:35695000-35698800	Enhancers	Fetal Thymus	thymus
43	chr19:35695200-35695800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:35695200-35696000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr19:35695200-35696200	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr19:35695200-35696200	Enhancers	GM12878-XiMat	blood
47	chr19:35695200-35696400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr19:35695200-35699200	Enhancers	Primary hematopoietic stem cells	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links