Variant report

Variant	rs200830418
Chromosome Location	chr12:32523963-32523964
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	chr12:32522485..32524048-chr12:32531384..32533676,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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
4	nsv438201	chr12:32523455-32531212	Weak transcription Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32475600-32532400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:32480600-32524800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:32492200-32527400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr12:32492200-32530400	Weak transcription	Thymus	Thymus
5	chr12:32492400-32524200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr12:32492400-32527200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:32492400-32532000	Weak transcription	Brain Angular Gyrus	brain
8	chr12:32494200-32533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:32502400-32524000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:32508600-32527000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:32515000-32524000	Weak transcription	Spleen	Spleen
12	chr12:32515000-32526400	Weak transcription	Aorta	Aorta
13	chr12:32518800-32531800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr12:32519000-32524000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:32519000-32524000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:32519000-32530000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:32519000-32530000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:32519000-32530000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:32519000-32530000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:32519000-32530200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
21	chr12:32519000-32530400	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr12:32519200-32530200	Weak transcription	HSMM	muscle
23	chr12:32519200-32532000	Weak transcription	NHDF-Ad	bronchial
24	chr12:32520600-32529800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:32520800-32530600	Weak transcription	HSMMtube	muscle
26	chr12:32520800-32532400	Weak transcription	Fetal Intestine Small	intestine
27	chr12:32521000-32524200	Weak transcription	Brain Germinal Matrix	brain
28	chr12:32522400-32530000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr12:32522400-32532200	Weak transcription	Osteobl	bone
30	chr12:32522600-32524200	Weak transcription	Fetal Stomach	stomach
31	chr12:32522600-32525600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:32522600-32526400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:32522600-32527200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:32522600-32529000	Weak transcription	Ovary	ovary
35	chr12:32522600-32530400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:32522600-32530400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:32522600-32535800	Weak transcription	Fetal Brain Female	brain
38	chr12:32522800-32532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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