Variant report

Variant	rs7311598
Chromosome Location	chr12:10281847-10281848
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11053625	1.00[CEU][hapmap];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12304486	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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	nsv898757	chr12:10229281-10614641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv3368699	chr12:10281384-10281862	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10278600-10282400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr12:10280000-10282000	Bivalent/Poised TSS	Primary B cells from cord blood	blood
3	chr12:10280400-10282800	Active TSS	Brain Hippocampus Middle	brain
4	chr12:10280600-10283200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr12:10280600-10284600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr12:10280800-10282800	Active TSS	Primary monocytes fromperipheralblood	blood
7	chr12:10281000-10282000	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr12:10281000-10282200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:10281000-10282800	Active TSS	Brain Anterior Caudate	brain
10	chr12:10281000-10283000	Flanking Active TSS	Primary hematopoietic stem cells	blood
11	chr12:10281200-10282800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr12:10281200-10282800	Active TSS	Duodenum Mucosa	Duodenum
13	chr12:10281200-10283000	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr12:10281200-10285200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr12:10281400-10282800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr12:10281400-10285000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:10281600-10282600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr12:10281600-10282600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr12:10281600-10282800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr12:10281600-10283000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr12:10281600-10283600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr12:10281600-10283600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr12:10281600-10284200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr12:10281800-10282600	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr12:10281800-10282600	Active TSS	Fetal Intestine Large	intestine
26	chr12:10281800-10282800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr12:10281800-10282800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:10281800-10282800	Active TSS	Fetal Muscle Leg	muscle
29	chr12:10281800-10282800	Active TSS	Placenta	Placenta
30	chr12:10281800-10283000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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