Variant report

Variant	rs325430
Chromosome Location	chr12:32514187-32514188
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12229117	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs191257	0.81[AFR][1000 genomes]
rs2470380	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2728685	0.85[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs325433	0.81[AFR][1000 genomes]
rs325434	0.81[AFR][1000 genomes]

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	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	esv2751096	chr12:32280340-32702784	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv558171	chr12:32287259-32559693	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32460400-32514600	Weak transcription	HMEC	breast
2	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:32476400-32515400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr12:32480600-32524800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:32484400-32515600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr12:32485800-32520000	Weak transcription	Fetal Kidney	kidney
7	chr12:32490800-32518600	Weak transcription	Fetal Intestine Small	intestine
8	chr12:32492200-32514200	Weak transcription	Lung	lung
9	chr12:32492200-32518600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr12:32492200-32518600	Weak transcription	Brain Germinal Matrix	brain
11	chr12:32492200-32522000	Weak transcription	Fetal Stomach	stomach
12	chr12:32492200-32523800	Weak transcription	Primary T cells from cord blood	blood
13	chr12:32492200-32523800	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr12:32492200-32527400	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:32492200-32530400	Weak transcription	Thymus	Thymus
16	chr12:32492400-32514600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr12:32492400-32518600	Weak transcription	HSMMtube	muscle
18	chr12:32492400-32522000	Weak transcription	Fetal Brain Female	brain
19	chr12:32492400-32524200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:32492400-32527200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr12:32492400-32532000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:32492600-32523200	Weak transcription	Primary B cells from cord blood	blood
23	chr12:32493000-32522000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:32493200-32521200	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr12:32493800-32515000	Weak transcription	Primary B cells from peripheral blood	blood
26	chr12:32493800-32516200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:32493800-32518400	Weak transcription	Osteobl	bone
28	chr12:32494000-32518600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:32494000-32518600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr12:32494200-32515400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr12:32494200-32533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:32494400-32514600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr12:32494800-32515400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr12:32497400-32523800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr12:32497600-32518600	Weak transcription	HSMM	muscle
36	chr12:32497600-32518600	Weak transcription	NH-A	brain
37	chr12:32497600-32520600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr12:32499400-32514800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr12:32501000-32518400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:32502200-32515400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr12:32502200-32523800	Weak transcription	Dnd41	blood
42	chr12:32502400-32515400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr12:32502400-32524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:32508600-32527000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:32510800-32514200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:32510800-32514600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr12:32511000-32520600	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr12:32511800-32514800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:32512400-32521800	Weak transcription	Ovary	ovary
50	chr12:32514000-32515000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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