Variant report

Variant	rs1196471
Chromosome Location	chr7:121634913-121634914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:121243299..121246166-chr7:121634250..121636757,2	MCF-7	breast:
2	chr7:120969283..120970096-chr7:121634782..121635540,2	MCF-7	breast:
3	chr7:121006632..121007533-chr7:121634434..121635294,2	MCF-7	breast:
4	chr7:121626133..121626919-chr7:121634742..121635579,2	K562	blood:
5	chr7:121244664..121245983-chr7:121634527..121635831,5	MCF-7	breast:
6	chr7:121391786..121393512-chr7:121634393..121635546,7	MCF-7	breast:
7	chr7:121007069..121007588-chr7:121634575..121635222,2	K562	blood:
8	chr7:121392348..121393495-chr7:121634603..121636011,13	MCF-7	breast:
9	chr7:121244907..121245973-chr7:121634716..121635540,3	MCF-7	breast:

No data

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1147487	0.90[JPT][hapmap]
rs1147497	0.85[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1196472	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196475	0.84[CHB][hapmap];0.93[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs1196501	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1196504	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1196506	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1196507	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1196508	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1196512	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[CHD][hapmap];0.97[GIH][hapmap];0.90[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1196513	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1196514	1.00[CEU][hapmap];0.80[JPT][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1206381	0.90[JPT][hapmap]
rs2693657	0.94[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];0.95[MEX][hapmap];0.84[MKK][hapmap];0.97[TSI][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4301385	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1196471	RNF148	cis	parietal	SCAN

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121613200-121635000	Weak transcription	Fetal Brain Male	brain
2	chr7:121624000-121647800	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr7:121625000-121635200	Weak transcription	Brain Substantia Nigra	brain
4	chr7:121625000-121650800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:121626000-121650600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr7:121626000-121651000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:121626400-121650400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr7:121627800-121636600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:121627800-121650600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:121628200-121650000	Weak transcription	Brain Germinal Matrix	brain
11	chr7:121629000-121635600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr7:121629000-121636800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr7:121629000-121650000	Weak transcription	Fetal Brain Female	brain
14	chr7:121632200-121636400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:121632400-121645800	Weak transcription	NHEK	skin
16	chr7:121632400-121646400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:121633200-121635200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:121633200-121635800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr7:121633200-121636400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:121633200-121637000	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:121633200-121637200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:121633200-121649200	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:121633400-121635200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr7:121633800-121635200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:121634400-121706000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:121634600-121635400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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