Variant report

Variant	rs190030615
Chromosome Location	chr12:32531227-32531228
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32530472..32534353-chr12:32830607..32833580,3	K562	blood:

Variant related genes	Relation type
ENSG00000087470	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv526183	chr12:32531212-32535815	Weak transcription Active TSS Enhancers Flanking Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv469346	chr12:32531220-32587465	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription 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	8 gene(s)	inside rSNPs	diseases
6	nsv558188	chr12:32531220-32587465	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 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	chr12:32492400-32532000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:32494200-32533800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr12:32518800-32531800	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:32519200-32532000	Weak transcription	NHDF-Ad	bronchial
6	chr12:32520800-32532400	Weak transcription	Fetal Intestine Small	intestine
7	chr12:32522400-32532200	Weak transcription	Osteobl	bone
8	chr12:32522600-32535800	Weak transcription	Fetal Brain Female	brain
9	chr12:32522800-32532400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr12:32529800-32532000	Weak transcription	Ovary	ovary
11	chr12:32530600-32532000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr12:32530600-32532400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:32530600-32534000	Weak transcription	HSMM	muscle
14	chr12:32530800-32531600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:32530800-32531800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:32530800-32531800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:32530800-32532000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:32530800-32532000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr12:32530800-32532000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr12:32530800-32532000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr12:32530800-32532200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr12:32530800-32532200	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr12:32531000-32532000	Weak transcription	K562	blood
24	chr12:32531000-32533400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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