Variant report

Variant	rs12096801
Chromosome Location	chr1:150974081-150974082
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr1:150973615-150974612	K562	blood:	n/a	n/a
2	POLR2A	chr1:150974054-150974359	ECC-1	luminal epithelium:	n/a	n/a
3	MEF2A	chr1:150974000-150974320	K562	blood:	n/a	n/a
4	EP300	chr1:150973677-150974551	K562	blood:	n/a	chr1:150974459-150974473 chr1:150974173-150974182 chr1:150974466-150974480
5	JUND	chr1:150973802-150974564	K562	blood:	n/a	chr1:150974136-150974148
6	JUN	chr1:150974068-150974397	K562	blood:	n/a	chr1:150974136-150974148
7	MEF2A	chr1:150973915-150974435	K562	blood:	n/a	n/a
8	ATF3	chr1:150974081-150974371	K562	blood:	n/a	n/a
9	SPI1	chr1:150974003-150974921	HL-60	blood:	n/a	chr1:150974458-150974465 chr1:150974456-150974469
10	ELF1	chr1:150973991-150974377	K562	blood:	n/a	n/a
11	ATF3	chr1:150974019-150974371	K562	blood:	n/a	n/a
12	BHLHE40	chr1:150974029-150974556	K562	blood:	n/a	n/a
13	JUN	chr1:150971160-150974856	K562	blood:	n/a	chr1:150973596-150973607 chr1:150972502-150972511 chr1:150974136-150974148
14	USF1	chr1:150974034-150974493	K562	blood:	n/a	n/a
15	JUN	chr1:150974022-150974424	K562	blood:	n/a	chr1:150974136-150974148
16	MAX	chr1:150974011-150974471	K562	blood:	n/a	n/a
17	MYC	chr1:150974052-150974474	K562	blood:	n/a	n/a
18	MAZ	chr1:150974038-150974436	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:150947267..150950099-chr1:150971491..150975400,3	K562	blood:
2	chr1:150973043..150975367-chr1:151142300..151144414,2	MCF-7	breast:
3	chr1:150896490..150900327-chr1:150972734..150976492,4	K562	blood:
4	chr1:150950305..150952431-chr1:150971107..150975123,3	K562	blood:
5	chr1:150944914..150946603-chr1:150972923..150974497,2	K562	blood:
6	chr1:150973924..150975447-chr1:151029074..151032058,2	K562	blood:
7	chr1:150945097..150946839-chr1:150973464..150975553,2	K562	blood:
8	chr1:150954755..150957126-chr1:150972520..150975361,2	K562	blood:

Variant related genes	Relation type
FAM63A	TF binding region
ENSG00000143418	Chromatin interaction
ENSG00000213190	Chromatin interaction
ENSG00000143379	Chromatin interaction
ENSG00000197622	Chromatin interaction
ENSG00000231073	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11204755	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12073630	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12074446	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12075317	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12078033	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12079970	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1673161	0.87[EUR][1000 genomes]
rs28527376	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2925740	0.98[EUR][1000 genomes]
rs3002292	0.85[EUR][1000 genomes]
rs41310885	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4418603	0.87[EUR][1000 genomes]
rs7526955	0.87[EUR][1000 genomes]
rs771200	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522317	chr1:150933723-150974162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
5	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150955400-150978800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:150961800-150978200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:150967600-150974200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:150967600-150975200	Strong transcription	Fetal Intestine Small	intestine
5	chr1:150967600-150975600	Strong transcription	Fetal Stomach	stomach
6	chr1:150967600-150978000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:150968000-150975200	Weak transcription	Small Intestine	intestine
8	chr1:150968200-150977400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:150968400-150974200	Strong transcription	Pancreas	Pancrea
10	chr1:150968400-150974200	Weak transcription	Right Atrium	heart
11	chr1:150968400-150974200	Weak transcription	Thymus	Thymus
12	chr1:150968400-150975200	Weak transcription	Hela-S3	cervix
13	chr1:150968400-150978000	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:150968400-150978000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr1:150968400-150978000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:150968600-150974600	Strong transcription	Liver	Liver
17	chr1:150968600-150975000	Weak transcription	Dnd41	blood
18	chr1:150968600-150975400	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr1:150968600-150975600	Weak transcription	Psoas Muscle	Psoas
20	chr1:150968600-150975600	Weak transcription	GM12878-XiMat	blood
21	chr1:150968600-150977400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:150968600-150977400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr1:150968600-150977400	Weak transcription	NHDF-Ad	bronchial
24	chr1:150968600-150978000	Weak transcription	A549	lung
25	chr1:150969000-150974200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:150969200-150974400	Strong transcription	Stomach Smooth Muscle	stomach
27	chr1:150969200-150974600	Strong transcription	Duodenum Mucosa	Duodenum
28	chr1:150969400-150974200	Strong transcription	Adipose Nuclei	Adipose
29	chr1:150969400-150974200	Strong transcription	Left Ventricle	heart
30	chr1:150969400-150974200	Strong transcription	Lung	lung
31	chr1:150969400-150974600	Strong transcription	Brain Germinal Matrix	brain
32	chr1:150969400-150974600	Strong transcription	Ovary	ovary
33	chr1:150969400-150974600	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr1:150969400-150974800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr1:150969400-150974800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:150969400-150974800	Strong transcription	Fetal Muscle Leg	muscle
37	chr1:150969400-150975000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr1:150969400-150975000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:150969400-150975000	Strong transcription	Fetal Brain Female	brain
40	chr1:150969400-150975200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr1:150969400-150975200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr1:150969400-150975400	Strong transcription	Fetal Intestine Large	intestine
43	chr1:150969400-150975800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:150969600-150974600	Strong transcription	Colon Smooth Muscle	Colon
45	chr1:150969600-150974600	Strong transcription	Right Ventricle	heart
46	chr1:150969600-150974800	Strong transcription	Placenta	Placenta
47	chr1:150969600-150975400	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:150970000-150978400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:150970400-150974400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:150970400-150975600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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