Variant report

Variant	rs17035928
Chromosome Location	chr12:104992184-104992185
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104989262..104996194-chr12:104996249..105001190,9	K562	blood:
2	chr12:104985616..104988878-chr12:104989745..104992186,3	K562	blood:
3	chr12:104983415..104985825-chr12:104991733..104993529,2	MCF-7	breast:
4	chr12:104990754..104993750-chr12:104994386..104996312,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264295	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11112131	1.00[JPT][hapmap]
rs11112134	1.00[JPT][hapmap]
rs11836281	1.00[JPT][hapmap]
rs12581164	1.00[JPT][hapmap]
rs12582864	1.00[JPT][hapmap]
rs17035941	1.00[JPT][hapmap]
rs17035961	1.00[JPT][hapmap]
rs17035985	1.00[JPT][hapmap]
rs17036007	1.00[JPT][hapmap]
rs737113	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
3	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17035928	CHST11	cis	parietal	SCAN
rs17035928	TDG	cis	parietal	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104976800-104996800	Weak transcription	Primary T cells from cord blood	blood
2	chr12:104980200-104997600	Weak transcription	Esophagus	oesophagus
3	chr12:104982600-104994800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:104982800-104995400	Weak transcription	Thymus	Thymus
5	chr12:104983200-104996800	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr12:104983200-104997800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr12:104985000-104996400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:104987000-104992400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:104987200-104992800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:104987600-104992600	Weak transcription	Spleen	Spleen
11	chr12:104987800-104997800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:104988000-104997000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:104988000-104997200	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
14	chr12:104988600-104994800	Enhancers	Primary B cells from peripheral blood	blood
15	chr12:104988800-104993000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:104988800-104995600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr12:104988800-104995600	Enhancers	GM12878-XiMat	blood
18	chr12:104989200-104992800	Enhancers	Fetal Thymus	thymus
19	chr12:104989200-104997800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:104989400-104995400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:104989400-104995800	Enhancers	Placenta	Placenta
22	chr12:104989400-104997800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr12:104989400-105030600	Strong transcription	Dnd41	blood
24	chr12:104989800-104993000	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr12:104990000-104992200	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr12:104990000-104992800	Weak transcription	Small Intestine	intestine
27	chr12:104990000-104994200	Enhancers	Fetal Muscle Leg	muscle
28	chr12:104990000-104994600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:104990000-104995200	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr12:104990000-104995400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:104990200-104995800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr12:104990400-104992200	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr12:104990400-104992400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr12:104990400-104992400	Weak transcription	Adipose Nuclei	Adipose
35	chr12:104990400-104994600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr12:104990400-104995200	Enhancers	Primary hematopoietic stem cells	blood
37	chr12:104990600-104992400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr12:104990600-104992400	Enhancers	Osteobl	bone
39	chr12:104990600-104992800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:104990600-104993600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr12:104990600-104993600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr12:104990600-104994200	Enhancers	Lung	lung
43	chr12:104990600-104995600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:104990800-104992200	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr12:104990800-104992600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:104990800-104992600	Enhancers	NH-A	brain
47	chr12:104990800-104992800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:104990800-104992800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr12:104990800-104993400	Weak transcription	Right Atrium	heart
50	chr12:104990800-104997600	Weak transcription	Brain Angular Gyrus	brain

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