Variant report

Variant	rs17035643
Chromosome Location	chr12:104863053-104863054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104861083..104865275-chr12:104866418..104870159,5	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11112089	1.00[TSI][hapmap]
rs12312652	1.00[EUR][1000 genomes]
rs12319682	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12321261	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs12321380	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17035738	1.00[EUR][1000 genomes]
rs17035740	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17035742	1.00[EUR][1000 genomes]
rs17035786	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs58135543	1.00[EUR][1000 genomes]
rs59857332	1.00[EUR][1000 genomes]
rs7303821	1.00[EUR][1000 genomes]
rs7342363	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7957854	1.00[TSI][hapmap];1.00[EUR][1000 genomes]

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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104853200-104868600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:104853400-104863200	Weak transcription	Aorta	Aorta
3	chr12:104853600-104867000	Enhancers	Primary B cells from peripheral blood	blood
4	chr12:104853800-104870600	Weak transcription	Brain Cingulate Gyrus	brain
5	chr12:104854200-104867600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr12:104855200-104863800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:104855200-104868200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr12:104855200-104868600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr12:104855400-104863200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104855400-104864800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:104855400-104866400	Weak transcription	Brain Germinal Matrix	brain
12	chr12:104855400-104874400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:104855400-104874800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:104856800-104864400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:104856800-104867400	Enhancers	Thymus	Thymus
16	chr12:104857000-104865600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:104857000-104867000	Weak transcription	NH-A	brain
18	chr12:104857000-104868200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr12:104857000-104873600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:104857200-104869200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr12:104857400-104863800	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:104857400-104864600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr12:104857400-104866200	Weak transcription	Fetal Stomach	stomach
24	chr12:104857600-104863600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr12:104857600-104869200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:104857800-104863200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr12:104857800-104867000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:104857800-104867000	Weak transcription	Left Ventricle	heart
29	chr12:104857800-104867000	Weak transcription	HUVEC	blood vessel
30	chr12:104857800-104871800	Weak transcription	Right Atrium	heart
31	chr12:104857800-104873600	Weak transcription	A549	lung
32	chr12:104858200-104866600	Weak transcription	Placenta	Placenta
33	chr12:104859200-104867200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr12:104859200-104879800	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr12:104859400-104863200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:104859400-104863800	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr12:104859400-104866600	Weak transcription	Colonic Mucosa	Colon
38	chr12:104859600-104864000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr12:104860600-104863600	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr12:104861200-104863200	Enhancers	Lung	lung
41	chr12:104861200-104863600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:104861400-104866600	Weak transcription	Small Intestine	intestine
43	chr12:104861600-104866400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr12:104861800-104863600	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr12:104861800-104864000	Enhancers	Primary T cells from cord blood	blood
46	chr12:104861800-104864400	Enhancers	Fetal Thymus	thymus
47	chr12:104861800-104867000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr12:104861800-104869200	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr12:104862000-104863800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr12:104862000-104864200	Enhancers	K562	blood

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