Variant report

Variant	rs11611650
Chromosome Location	chr12:104459088-104459089
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	JUN	chr12:104457437-104459338	K562	blood:	n/a	chr12:104458615-104458624
2	MXI1	chr12:104457504-104459190	HepG2	liver:	n/a	chr12:104458234-104458243
3	POLR2A	chr12:104458740-104459136	K562	blood:	n/a	n/a
4	HCFC1	chr12:104457328-104459464	Hela-S3	cervix:	n/a	n/a
5	TBL1XR1	chr12:104458974-104459138	K562	blood:	n/a	n/a
6	HA-E2F1	chr12:104457553-104459196	MCF-7	breast:	n/a	chr12:104458508-104458518 chr12:104458619-104458628 chr12:104458147-104458156
7	POLR2A	chr12:104458948-104459163	MCF-7	breast:	n/a	n/a
8	MAX	chr12:104457509-104459239	HepG2	liver:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
9	MAX	chr12:104457398-104459311	A549	lung:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
10	SIN3AK20	chr12:104457744-104459140	K562	blood:	n/a	n/a
11	MYC	chr12:104457534-104459253	K562	blood:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
12	POLR2A	chr12:104457438-104459142	H1-neurons	neurons:	n/a	n/a
13	MAX	chr12:104457507-104459193	K562	blood:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
14	ZNF263	chr12:104457610-104459273	HEK293-T-REx	kidney:	n/a	n/a
15	CTBP2	chr12:104457645-104459133	H1-hESC	embryonic stem cell:	n/a	n/a
16	MXI1	chr12:104456954-104459433	IMR90	lung:	n/a	chr12:104458234-104458243
17	ZNF384	chr12:104459006-104459229	K562	blood:	n/a	n/a
18	MAZ	chr12:104457608-104459092	K562	blood:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
19	UBTF	chr12:104457699-104459202	K562	blood:	n/a	n/a
20	UBTF	chr12:104457694-104459148	K562	blood:	n/a	n/a
21	STAT5A	chr12:104457467-104459098	GM12878	blood:	n/a	chr12:104458265-104458277 chr12:104458057-104458069 chr12:104457669-104457680
22	MXI1	chr12:104457085-104460152	SK-N-SH	brain:	n/a	chr12:104458234-104458243
23	E2F6	chr12:104458930-104459104	K562	blood:	n/a	n/a
24	SIN3A	chr12:104457510-104459287	H1-hESC	embryonic stem cell:	n/a	chr12:104458633-104458644 chr12:104458232-104458241 chr12:104458234-104458243 chr12:104458534-104458543
25	REST	chr12:104457115-104459356	H1-neurons	neurons:	n/a	chr12:104459012-104459025
26	POLR2A	chr12:104457548-104459112	ProgFib	skin:	n/a	n/a
27	MYC	chr12:104459019-104459112	MCF-7	breast:	n/a	n/a
28	POLR2A	chr12:104459086-104459286	MCF10A-Er-Src	breast:	n/a	n/a
29	MAZ	chr12:104457547-104459919	IMR90	lung:	n/a	chr12:104458145-104458155 chr12:104458231-104458244 chr12:104458233-104458242 chr12:104458232-104458243 chr12:104458233-104458242
30	ZBTB7A	chr12:104457924-104459099	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:104456335..104459744-chr12:104529847..104533076,5	K562	blood:
2	chr12:104456193..104459744-chr12:104529847..104533076,6	K562	blood:
3	chr12:104458613..104460615-chr12:104466800..104468593,2	K562	blood:
4	chr12:104458967..104460937-chr12:104609571..104611178,2	K562	blood:

Variant related genes	Relation type
GLT8D2	TF binding region
ENSG00000120837	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11111861	1.00[ASN][1000 genomes]
rs1125322	1.00[ASN][1000 genomes]
rs1165672	1.00[ASN][1000 genomes]
rs12825687	1.00[ASN][1000 genomes]
rs1385663	1.00[ASN][1000 genomes]
rs167715	1.00[ASN][1000 genomes]
rs167716	1.00[ASN][1000 genomes]
rs1882018	1.00[ASN][1000 genomes]
rs2243680	1.00[ASN][1000 genomes]
rs2248995	1.00[ASN][1000 genomes]
rs2251215	1.00[ASN][1000 genomes]
rs2374327	1.00[ASN][1000 genomes]
rs2439621	1.00[ASN][1000 genomes]
rs2576943	1.00[ASN][1000 genomes]
rs2583224	1.00[ASN][1000 genomes]
rs2583225	1.00[ASN][1000 genomes]
rs2583233	1.00[ASN][1000 genomes]
rs2583234	1.00[ASN][1000 genomes]
rs2583237	1.00[ASN][1000 genomes]
rs2583244	1.00[ASN][1000 genomes]
rs2583258	1.00[ASN][1000 genomes]
rs2583274	1.00[ASN][1000 genomes]
rs2583278	1.00[ASN][1000 genomes]
rs2629750	1.00[ASN][1000 genomes]
rs2700494	1.00[ASN][1000 genomes]
rs2700507	1.00[ASN][1000 genomes]
rs2700517	1.00[ASN][1000 genomes]
rs2722177	1.00[ASN][1000 genomes]
rs2722180	1.00[ASN][1000 genomes]
rs2722194	1.00[ASN][1000 genomes]
rs2723849	1.00[ASN][1000 genomes]
rs2723850	1.00[ASN][1000 genomes]
rs2723853	1.00[ASN][1000 genomes]
rs322104	1.00[ASN][1000 genomes]
rs322109	1.00[ASN][1000 genomes]
rs35140616	1.00[ASN][1000 genomes]
rs4135039	1.00[ASN][1000 genomes]
rs4135040	1.00[ASN][1000 genomes]
rs4135047	1.00[ASN][1000 genomes]
rs4135048	1.00[ASN][1000 genomes]
rs4135050	1.00[ASN][1000 genomes]
rs4135061	1.00[ASN][1000 genomes]
rs4135062	1.00[ASN][1000 genomes]
rs4135066	1.00[ASN][1000 genomes]
rs73177979	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs784084	1.00[ASN][1000 genomes]
rs931306	1.00[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	nsv427922	chr12:104325583-104523096	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104457000-104459600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:104457000-104459600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr12:104457200-104459400	Active TSS	NHLF	lung
4	chr12:104457200-104459600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr12:104457200-104460000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr12:104457400-104459200	Active TSS	H9 Cell Line	embryonic stem cell
7	chr12:104457400-104459200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr12:104457400-104459200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr12:104457400-104459200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:104457400-104459200	Active TSS	Brain Angular Gyrus	brain
11	chr12:104457400-104459200	Active TSS	Esophagus	oesophagus
12	chr12:104457400-104459400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr12:104457400-104459400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr12:104457400-104459400	Active TSS	Aorta	Aorta
15	chr12:104457400-104459400	Active TSS	Fetal Kidney	kidney
16	chr12:104457400-104459400	Active TSS	A549	lung
17	chr12:104457400-104459600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:104457400-104459600	Active TSS	Left Ventricle	heart
19	chr12:104457400-104459600	Active TSS	Psoas Muscle	Psoas
20	chr12:104457400-104459800	Active TSS	NHDF-Ad	bronchial
21	chr12:104457400-104460000	Active TSS	Right Atrium	heart
22	chr12:104457400-104460400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr12:104457600-104459200	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr12:104457600-104459200	Active TSS	Fetal Heart	heart
25	chr12:104457600-104459200	Active TSS	Fetal Intestine Large	intestine
26	chr12:104457600-104459200	Active TSS	Fetal Stomach	stomach
27	chr12:104457600-104459200	Active TSS	Gastric	stomach
28	chr12:104457600-104459200	Active TSS	Pancreas	Pancrea
29	chr12:104457600-104459200	Active TSS	Placenta Amnion	Placenta Amnion
30	chr12:104457600-104459200	Active TSS	Stomach Mucosa	stomach
31	chr12:104457600-104459400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:104457600-104459400	Active TSS	Muscle Satellite Cultured Cells	--
33	chr12:104457600-104459400	Active TSS	Small Intestine	intestine
34	chr12:104457600-104459600	Active TSS	Colon Smooth Muscle	Colon
35	chr12:104457600-104459600	Active TSS	Ovary	ovary
36	chr12:104457600-104459800	Active TSS	HSMMtube	muscle
37	chr12:104457800-104459200	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr12:104457800-104459200	Active TSS	Brain Substantia Nigra	brain
39	chr12:104457800-104459200	Active TSS	Rectal Smooth Muscle	rectum
40	chr12:104457800-104459400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr12:104457800-104459400	Active TSS	Fetal Muscle Leg	muscle
42	chr12:104457800-104459400	Active TSS	Stomach Smooth Muscle	stomach
43	chr12:104457800-104459400	Active TSS	HSMM	muscle
44	chr12:104457800-104459400	Active TSS	K562	blood
45	chr12:104457800-104459400	Active TSS	Osteobl	bone
46	chr12:104457800-104459600	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr12:104457800-104459600	Active TSS	Brain Hippocampus Middle	brain
48	chr12:104457800-104459600	Active TSS	HMEC	breast
49	chr12:104457800-104460000	Active TSS	Fetal Muscle Trunk	muscle
50	chr12:104457800-104460000	Active TSS	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links