Variant report

Variant	rs34298380
Chromosome Location	chr11:120203559-120203560
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr11:120203260-120204047	GM12878	blood:	n/a	n/a
2	SPI1	chr11:120203551-120203837	GM12891	blood:	n/a	n/a
3	SPI1	chr11:120203520-120203919	HL-60	blood:	n/a	n/a
4	SPI1	chr11:120203525-120203862	GM12891	blood:	n/a	n/a
5	POLR2A	chr11:120203476-120203576	Hela-S3	cervix:	n/a	n/a
6	SPI1	chr11:120203550-120203905	HL-60	blood:	n/a	n/a
7	SPI1	chr11:120203517-120203907	GM12878	blood:	n/a	n/a
8	SPI1	chr11:120203555-120203835	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:120203529-120203579	Hela-S3	cervix:	n/a
2	chr11:120203529-120203579	MCF10A-Er-Src	breast:	n/a
3	chr11:120203529-120203579	IMR90	lung:	fetal
4	chr11:120203529-120203579	HCF	heart:	n/a
5	chr11:120203529-120203579	BE2_C	brain:	n/a
6	chr11:120203529-120203579	HRE	kidney:	n/a
7	chr11:120203529-120203579	ovcar-3	ovarian:	n/a
8	chr11:120203529-120203579	SKMC	muscle:	n/a
9	chr11:120203529-120203579	MCF-7	breast:	n/a
10	chr11:120203529-120203579	AG09319	gingival:	n/a
11	chr11:120203529-120203579	NHDF-neo	bronchial:	n/a
12	chr11:120203529-120203579	A549	lung:	n/a
13	chr11:120203529-120203579	CMK	blood:	n/a
14	chr11:120203529-120203579	NHBE	bronchial:	n/a
15	chr11:120203529-120203579	HNPCEpiC	eye:	n/a
16	chr11:120203529-120203579	AoSMC	blood vessel:	n/a
17	chr11:120203529-120203579	U87	brain:	n/a
18	chr11:120203529-120203579	HEK293	kidney:	embryo
19	chr11:120203529-120203579	AG10803	skin:	n/a
20	chr11:120203529-120203579	HL-60	blood:	n/a
21	chr11:120203529-120203579	SAEC	small airway:	n/a
22	chr11:120203529-120203579	K562	blood:	n/a
23	chr11:120203529-120203579	AG09309	skin:	n/a
24	chr11:120203529-120203579	H1-hESC	embryonic stem cell:	embryo
25	chr11:120203529-120203579	RPTEC	kidney:	n/a
26	chr11:120203529-120203579	HAEpiC	amniotic membrane:	n/a
27	chr11:120203529-120203579	Jurkat	blood:	n/a
28	chr11:120203529-120203579	ProgFib	skin:	n/a
29	chr11:120203529-120203579	ECC-1	luminal epithelium:	n/a
30	chr11:120203529-120203579	GM12891	blood:	n/a
31	chr11:120203529-120203579	HEEpiC	esophagus:	n/a
32	chr11:120203529-120203579	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:120203529-120203579	GM12878	blood:	n/a
34	chr11:120203529-120203579	PANC-1	pancreas:	n/a
35	chr11:120203529-120203579	NB4	blood:	n/a
36	chr11:120203529-120203579	AG04449	skin:	fetal
37	chr11:120203529-120203579	GM06990	blood:	n/a
38	chr11:120203529-120203579	PrEC	prostate:	n/a
39	chr11:120203529-120203579	HRCEpiC	kidney:	n/a
40	chr11:120203529-120203579	HCPEpiC	choroid plexus:	n/a
41	chr11:120203529-120203579	HCM	heart:	n/a
42	chr11:120203529-120203579	HMEC	breast:	n/a
43	chr11:120203529-120203579	GM12892	blood:	n/a
44	chr11:120203529-120203579	GM19239	blood:	n/a
45	chr11:120203529-120203579	SK-N-SH	brain:	n/a
46	chr11:120203529-120203579	T-47D	breast:	n/a
47	chr11:120203529-120203579	NT2-D1	testis:	n/a
48	chr11:120203529-120203579	HRPEpiC	eye:	n/a
49	chr11:120203529-120203579	AG04450	lung:	fetal
50	chr11:120203529-120203579	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:120197781..120201028-chr11:120203553..120206762,3	MCF-7	breast:
2	chr11:120193025..120195977-chr11:120201525..120204056,3	K562	blood:
3	chr11:120106244..120107805-chr11:120202318..120204385,2	K562	blood:
4	chr11:120202465..120204611-chr11:120208153..120210823,2	K562	blood:
5	chr11:120201225..120203829-chr11:120204191..120207304,3	K562	blood:
6	chr11:120106365..120107959-chr11:120202588..120204989,2	MCF-7	breast:
7	chr11:120202870..120205056-chr11:120277472..120279353,2	K562	blood:
8	chr11:120194862..120197585-chr11:120203291..120207610,4	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGEF12	TF binding region
ARHGEF12	CpG island
ENSG00000137709	Chromatin interaction
ENSG00000181264	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10750172	0.81[ASN][1000 genomes]
rs10750173	0.81[AMR][1000 genomes]
rs10790378	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10790380	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10790382	0.81[AMR][1000 genomes]
rs10892562	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10892563	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10892564	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10892566	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs10892567	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10892570	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs10892574	0.81[AMR][1000 genomes]
rs11217821	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217840	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11217841	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11217852	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11600703	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11823300	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12361632	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12417581	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12420378	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12787285	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12806740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1892894	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1893261	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36011588	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4539328	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4936517	0.85[EUR][1000 genomes]
rs4938799	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4938801	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4938804	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4938805	0.82[AMR][1000 genomes]
rs61898351	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6589810	0.83[EUR][1000 genomes]
rs6589811	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6589812	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7101415	0.83[EUR][1000 genomes]
rs7104639	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7107211	0.82[AMR][1000 genomes]
rs7117063	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7117321	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7118391	0.81[ASN][1000 genomes]
rs7121779	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7126328	0.82[AMR][1000 genomes]
rs7126413	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7131046	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7478880	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7924772	0.82[EUR][1000 genomes]
rs7924963	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7924975	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932037	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7932658	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7933086	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7937612	0.82[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7948928	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs7952529	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9633919	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9633950	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120196400-120206400	Weak transcription	Gastric	stomach
2	chr11:120196800-120205800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:120196800-120205800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr11:120196800-120206200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr11:120197200-120205800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:120197200-120205800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:120197600-120205800	Weak transcription	Liver	Liver
8	chr11:120197800-120205600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr11:120198000-120205200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:120198000-120205600	Enhancers	Hela-S3	cervix
11	chr11:120198200-120205600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:120198200-120205600	Weak transcription	HepG2	liver
13	chr11:120198400-120204000	Weak transcription	GM12878-XiMat	blood
14	chr11:120198400-120204600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr11:120198400-120205600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:120198400-120205800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr11:120198400-120206400	Weak transcription	Lung	lung
18	chr11:120198400-120206400	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr11:120199400-120205200	Weak transcription	Colon Smooth Muscle	Colon
20	chr11:120199600-120203600	Weak transcription	K562	blood
21	chr11:120199600-120205800	Weak transcription	Right Atrium	heart
22	chr11:120200600-120203800	Strong transcription	Brain Germinal Matrix	brain
23	chr11:120201000-120204800	Enhancers	HMEC	breast
24	chr11:120201200-120205800	Weak transcription	Brain Angular Gyrus	brain
25	chr11:120201200-120206400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:120201200-120206400	Weak transcription	Spleen	Spleen
27	chr11:120201400-120204400	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:120201400-120205600	Weak transcription	Adipose Nuclei	Adipose
29	chr11:120201400-120205800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:120201400-120205800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr11:120201600-120203600	Enhancers	Esophagus	oesophagus
32	chr11:120201600-120204000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:120201600-120204800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr11:120201600-120205600	Weak transcription	Fetal Brain Male	brain
35	chr11:120201600-120205600	Enhancers	HSMMtube	muscle
36	chr11:120201600-120205600	Enhancers	HUVEC	blood vessel
37	chr11:120201800-120204000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr11:120201800-120205600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr11:120201800-120205600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:120201800-120205800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr11:120202000-120204600	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr11:120202000-120205600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr11:120202000-120205600	Weak transcription	Fetal Intestine Large	intestine
44	chr11:120202000-120205600	Weak transcription	Stomach Smooth Muscle	stomach
45	chr11:120202000-120205800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr11:120202200-120204600	Enhancers	NHLF	lung
47	chr11:120202200-120205200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:120202200-120205600	Enhancers	NHDF-Ad	bronchial
49	chr11:120202200-120205800	Weak transcription	Left Ventricle	heart
50	chr11:120202400-120203600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links