Variant report

Variant	rs313315
Chromosome Location	chr12:104965584-104965585
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104963784..104965838-chr12:104968298..104971242,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2665739	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2665740	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs865606	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104949600-104968800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:104958400-104969000	Weak transcription	A549	lung
4	chr12:104958400-104972400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:104959400-104965600	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr12:104960600-104970600	Weak transcription	Right Atrium	heart
7	chr12:104961200-104965600	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr12:104961200-104965600	Enhancers	Fetal Thymus	thymus
9	chr12:104961800-104972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:104962200-104969400	Weak transcription	Pancreas	Pancrea
11	chr12:104962200-104969800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:104962400-104965600	Flanking Active TSS	GM12878-XiMat	blood
13	chr12:104962400-104971200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:104963000-104965600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr12:104963400-104965600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:104963400-104974800	Weak transcription	Gastric	stomach
17	chr12:104964200-104965600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:104964200-104970600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:104964200-104974800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:104964200-104976000	Weak transcription	Primary T cells from cord blood	blood
21	chr12:104964400-104965600	Enhancers	Primary B cells from cord blood	blood
22	chr12:104964400-104965600	Enhancers	Monocytes-CD14+_RO01746	blood
23	chr12:104964400-104965800	Enhancers	Primary B cells from peripheral blood	blood
24	chr12:104964400-104966800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:104964400-104968800	Weak transcription	Thymus	Thymus
26	chr12:104964400-104968800	Weak transcription	K562	blood
27	chr12:104964400-104969000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:104964400-104969000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:104964400-104969000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:104964400-104969000	Weak transcription	Duodenum Mucosa	Duodenum
31	chr12:104964400-104969000	Weak transcription	Lung	lung
32	chr12:104964400-104969200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr12:104964400-104972800	Weak transcription	Spleen	Spleen
34	chr12:104964600-104965600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr12:104964600-104969800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr12:104964800-104965600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:104964800-104965600	Enhancers	Brain Substantia Nigra	brain
38	chr12:104964800-104969000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr12:104964800-104970600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:104965000-104965600	Enhancers	Primary hematopoietic stem cells	blood
41	chr12:104965000-104965600	Strong transcription	Dnd41	blood
42	chr12:104965200-104965600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr12:104965200-104975400	Weak transcription	Placenta	Placenta
44	chr12:104965400-104968800	Weak transcription	Primary T cells fromperipheralblood	blood
45	chr12:104965400-104968800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr12:104965400-104970000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr12:104965400-104970600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:104965400-104971600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr12:104965400-104971600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr12:104965400-104982200	Weak transcription	Left Ventricle	heart

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