Variant report

Variant	rs10744422
Chromosome Location	chr12:123336789-123336790
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	FOS	chr12:123336470-123336809	MCF10A-Er-Src	breast:	n/a	chr12:123336656-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
2	POLR2A	chr12:123336179-123337383	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr12:123336258-123336840	U87	brain:	n/a	n/a
4	POLR2A	chr12:123336306-123336944	HUVEC	blood vessel:	n/a	n/a
5	NR3C1	chr12:123336362-123336883	A549	lung:	n/a	chr12:123336616-123336630 chr12:123336610-123336636 chr12:123336534-123336543 chr12:123336610-123336636 chr12:123336616-123336630 chr12:123336610-123336636 chr12:123336610-123336636 chr12:123336610-123336636 chr12:123336657-123336666 chr12:123336658-123336667
6	FOS	chr12:123336326-123336901	HUVEC	blood vessel:	n/a	chr12:123336656-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
7	RAD21	chr12:123336439-123336809	IMR90	lung:	n/a	chr12:123336473-123336486
8	FOS	chr12:123336416-123336801	MCF10A-Er-Src	breast:	n/a	chr12:123336656-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
9	FOS	chr12:123336418-123336820	MCF10A-Er-Src	breast:	n/a	chr12:123336656-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
10	POLR2A	chr12:123336251-123336907	HUVEC	blood vessel:	n/a	n/a
11	PBX3	chr12:123336350-123336826	SK-N-SH	brain:	n/a	n/a
12	FOSL2	chr12:123336271-123336957	SK-N-SH	brain:	n/a	chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
13	PBX3	chr12:123336313-123336794	SK-N-SH	brain:	n/a	n/a
14	POLR2A	chr12:123336235-123336795	HUVEC	blood vessel:	n/a	n/a
15	JUN	chr12:123336377-123336829	HUVEC	blood vessel:	n/a	chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336657-123336667 chr12:123336531-123336542 chr12:123336657-123336667 chr12:123336535-123336543 chr12:123336658-123336666
16	POLR2A	chr12:123336616-123337100	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr12:123336246-123337135	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr12:123336746-123337026	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123329734..123338030-chr12:123339120..123345153,11	MCF-7	breast:

Variant related genes	Relation type
HIP1R	TF binding region
ENSG00000130787	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10744434	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10773627	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10773657	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10847826	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10847869	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12255	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12298151	0.85[ASN][1000 genomes]
rs12313006	0.82[ASN][1000 genomes]
rs12369846	0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12426809	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1532835	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1587856	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2061098	1.00[EUR][1000 genomes]
rs2061101	0.92[EUR][1000 genomes]
rs2135014	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2271049	0.88[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs2271050	0.94[ASN][1000 genomes]
rs2271051	0.84[ASN][1000 genomes]
rs2292132	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2292134	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2292135	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2292136	0.80[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs2292138	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2292139	0.82[ASN][1000 genomes]
rs2343108	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2343109	0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2343685	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2880678	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3817094	0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3825143	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3852536	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3852537	0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4759355	0.87[EUR][1000 genomes]
rs4759381	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4759382	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4759386	0.98[EUR][1000 genomes]
rs4759387	0.98[EUR][1000 genomes]
rs4759389	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59192320	0.84[ASN][1000 genomes]
rs7138398	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7139055	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7959441	0.98[EUR][1000 genomes]
rs7972447	1.00[EUR][1000 genomes]
rs7980541	0.98[EUR][1000 genomes]
rs897385	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs897386	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs897391	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs897392	0.83[ASN][1000 genomes]
rs897393	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs921808	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs936083	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs937766	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899571	chr12:123215734-123363562	Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS 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	55 gene(s)	inside rSNPs	diseases
6	nsv899574	chr12:123316566-123360151	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv560490	chr12:123326374-123346971	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv899575	chr12:123326374-123360151	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123321800-123336800	Weak transcription	Aorta	Aorta
2	chr12:123322800-123339600	Weak transcription	Dnd41	blood
3	chr12:123322800-123353000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:123323200-123340800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr12:123323200-123352000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr12:123323600-123340800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:123324600-123344800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:123324600-123352800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:123324800-123351600	Weak transcription	Small Intestine	intestine
10	chr12:123325000-123338400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:123326600-123336800	Weak transcription	Psoas Muscle	Psoas
12	chr12:123326600-123345000	Weak transcription	A549	lung
13	chr12:123327200-123337000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr12:123327200-123340000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:123327200-123344200	Weak transcription	Hela-S3	cervix
16	chr12:123327400-123352600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr12:123327600-123337000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:123327600-123353400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr12:123328200-123336800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:123329200-123337600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr12:123329200-123355000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:123329400-123341800	Weak transcription	HepG2	liver
23	chr12:123329600-123344600	Strong transcription	Fetal Intestine Small	intestine
24	chr12:123330000-123340400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr12:123330400-123344400	Strong transcription	Primary B cells from peripheral blood	blood
26	chr12:123330400-123349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:123330800-123336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr12:123331000-123337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:123331000-123340800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr12:123331200-123336800	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr12:123331400-123336800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:123332200-123338600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
33	chr12:123332200-123341000	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr12:123332200-123343200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr12:123332400-123337600	Strong transcription	Fetal Intestine Large	intestine
36	chr12:123332600-123341200	Genic enhancers	Brain Cingulate Gyrus	brain
37	chr12:123332600-123344800	Strong transcription	Duodenum Mucosa	Duodenum
38	chr12:123332600-123355600	Strong transcription	Thymus	Thymus
39	chr12:123333000-123336800	Strong transcription	Pancreas	Pancrea
40	chr12:123333000-123344400	Strong transcription	Spleen	Spleen
41	chr12:123333000-123344600	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr12:123333000-123345000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:123333200-123337400	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:123333400-123338600	Enhancers	Left Ventricle	heart
45	chr12:123333400-123339400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr12:123333400-123340800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr12:123333600-123338400	Strong transcription	Primary B cells from cord blood	blood
48	chr12:123333800-123342800	Weak transcription	Ovary	ovary
49	chr12:123334000-123338800	Enhancers	Right Ventricle	heart
50	chr12:123334200-123336800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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