Variant report

Variant	rs531628261
Chromosome Location	chr12:118731416-118731417
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118729613..118732493-chr12:118733521..118736057,3	K562	blood:
2	chr12:118712134..118713954-chr12:118730833..118733395,2	MCF-7	breast:
3	chr12:118730543..118732493-chr12:118733563..118736057,4	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv524938	chr12:118624736-118740675	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv1533353	chr12:118731393-118731734	Strong transcription Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118673400-118737600	Weak transcription	Brain Hippocampus Middle	brain
2	chr12:118673800-118737800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:118676000-118745200	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr12:118677000-118739800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:118683400-118739800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:118693400-118745000	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr12:118694600-118739800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr12:118699200-118737600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:118699800-118733800	Weak transcription	Fetal Stomach	stomach
10	chr12:118699800-118736000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:118700200-118737200	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr12:118700400-118738000	Weak transcription	Fetal Intestine Large	intestine
13	chr12:118702600-118744600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:118704000-118739000	Weak transcription	NHDF-Ad	bronchial
15	chr12:118709800-118737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:118710800-118738000	Weak transcription	NHEK	skin
17	chr12:118712200-118739000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:118712400-118745000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr12:118712600-118737400	Weak transcription	Small Intestine	intestine
20	chr12:118712800-118738000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr12:118715000-118741200	Weak transcription	Thymus	Thymus
22	chr12:118719200-118744400	Weak transcription	HSMM	muscle
23	chr12:118719600-118734600	Weak transcription	Primary T cells fromperipheralblood	blood
24	chr12:118720600-118734200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:118721400-118734800	Weak transcription	Primary B cells from cord blood	blood
27	chr12:118721400-118739800	Weak transcription	Left Ventricle	heart
28	chr12:118721600-118739400	Weak transcription	Psoas Muscle	Psoas
29	chr12:118722400-118737800	Weak transcription	Fetal Lung	lung
30	chr12:118722600-118734600	Weak transcription	Dnd41	blood
31	chr12:118722600-118737800	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr12:118722600-118739200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr12:118722600-118745000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr12:118726600-118746800	Weak transcription	Lung	lung
35	chr12:118727000-118733600	Weak transcription	Fetal Thymus	thymus
36	chr12:118727400-118737000	Weak transcription	Colon Smooth Muscle	Colon
37	chr12:118728200-118739000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr12:118728400-118738000	Weak transcription	K562	blood
39	chr12:118728400-118744400	Weak transcription	NHLF	lung
40	chr12:118728600-118738000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:118729200-118735400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr12:118729800-118736200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:118730000-118733200	Strong transcription	Primary B cells from peripheral blood	blood
44	chr12:118730000-118733400	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:118730000-118735400	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr12:118730400-118735000	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr12:118730600-118732800	Strong transcription	Primary T cells from cord blood	blood
48	chr12:118730800-118734600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:118731000-118733400	Weak transcription	GM12878-XiMat	blood
50	chr12:118731200-118732600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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