Variant report

Variant	rs4361970
Chromosome Location	chr1:165257255-165257256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165253102..165255836-chr1:165256006..165257807,2	MCF-7	breast:
2	chr1:165256968..165259442-chr1:165261760..165264725,2	K562	blood:
3	chr1:165127148..165129651-chr1:165256617..165259392,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10494442	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];0.93[MEX][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10918144	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs10918145	1.00[CHB][hapmap];0.91[CHD][hapmap];0.81[ASN][1000 genomes]
rs12135437	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.92[JPT][hapmap]
rs12404307	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12405561	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12411054	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1343554	0.85[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs16841924	0.85[CEU][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.87[MEX][hapmap];0.84[ASN][1000 genomes]
rs17404691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1811714	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap]
rs34458079	0.81[ASN][1000 genomes]
rs55743629	0.84[ASN][1000 genomes]
rs56274812	0.81[ASN][1000 genomes]
rs56820548	0.85[ASN][1000 genomes]
rs59974691	0.91[ASN][1000 genomes]
rs6677100	0.89[ASN][1000 genomes]
rs7518895	0.84[ASN][1000 genomes]
rs7519089	1.00[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs7528111	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.94[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	nsv869712	chr1:164866810-165299085	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4361970	CD247	cis	cerebellum	SCAN
rs4361970	FCRLA	cis	cerebellum	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165253600-165258200	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr1:165254600-165258800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:165254800-165258800	Enhancers	Liver	Liver
4	chr1:165255600-165258200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
5	chr1:165256000-165258000	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr1:165256400-165257600	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr1:165256400-165257600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:165256400-165258000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:165256400-165258000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr1:165256400-165258000	Enhancers	Rectal Mucosa Donor 29	rectum
11	chr1:165256400-165258200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr1:165256400-165258200	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr1:165256600-165258000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr1:165256600-165258000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:165256600-165258000	Enhancers	HepG2	liver
16	chr1:165256800-165257800	Enhancers	Colonic Mucosa	Colon
17	chr1:165256800-165258200	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr1:165256800-165258200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:165257200-165257600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:165257200-165257600	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr1:165257200-165257600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr1:165257200-165257600	Flanking Active TSS	A549	lung
23	chr1:165257200-165257800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr1:165257200-165258000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:165257200-165258200	Bivalent Enhancer	Fetal Muscle Leg	muscle

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