Variant report

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:117650558..117651087-chr12:118025216..118026112,2	K562	blood:
2	chr12:117804727..117805650-chr12:118025231..118026126,6	K562	blood:
3	chr12:117674012..117674526-chr12:118025201..118025945,3	MCF-7	breast:
4	chr12:117674053..117674957-chr12:118025160..118025705,3	K562	blood:
5	chr12:117804232..117805770-chr12:118025194..118026446,7	MCF-7	breast:
6	chr12:117806665..117807507-chr12:118025270..118026102,2	MCF-7	breast:
7	chr12:117804517..117805451-chr12:118024901..118026439,8	MCF-7	breast:
8	chr12:117652926..117655483-chr12:118025370..118027295,2	MCF-7	breast:

No data

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10774936	0.93[EUR][1000 genomes]
rs10774937	0.91[EUR][1000 genomes]
rs10774938	0.81[ASN][1000 genomes]
rs10850846	0.93[EUR][1000 genomes]
rs10850847	0.93[EUR][1000 genomes]
rs10850848	0.91[EUR][1000 genomes]
rs10850849	0.84[ASN][1000 genomes]
rs10850850	0.84[ASN][1000 genomes]
rs10850851	0.91[EUR][1000 genomes]
rs10850854	0.90[EUR][1000 genomes]
rs10850855	0.89[EUR][1000 genomes]
rs11068555	0.98[ASN][1000 genomes]
rs11068557	0.88[ASN][1000 genomes]
rs11068558	0.84[ASN][1000 genomes]
rs11068563	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11068565	0.91[EUR][1000 genomes]
rs12308267	0.88[EUR][1000 genomes]
rs12369419	0.92[EUR][1000 genomes]
rs61938965	0.91[EUR][1000 genomes]
rs6490129	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7970894	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832527	chr12:117974007-118110244	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7132400	KSR2	cis	parietal	SCAN
rs7132400	MED13L	cis	parietal	SCAN
rs7132400	OAS3	cis	cerebellum	SCAN
rs7132400	MED13L	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118021800-118036800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr12:118025000-118025600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
3	chr12:118025000-118025600	Enhancers	iPS-15b Cell Line	embryonic stem cell
4	chr12:118025000-118025600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr12:118025200-118025600	Enhancers	H1 Cell Line	embryonic stem cell
6	chr12:118025200-118025600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:118025200-118025800	Enhancers	Liver	Liver
8	chr12:118025400-118025600	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr12:118025400-118025600	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr12:118025400-118025600	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr12:118025400-118025600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
12	chr12:118025400-118025600	Enhancers	Fetal Intestine Large	intestine
13	chr12:118025400-118025600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
14	chr12:118025400-118025600	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
15	chr12:118025400-118026600	Enhancers	A549	lung
16	chr12:118025400-118030800	Weak transcription	HUES48 Cell Line	embryonic stem cell

Quick Search: