Variant report

Variant	rs12811312
Chromosome Location	chr12:26126398-26126399
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF7L2	chr12:26126261-26126466	PANC-1	pancreas:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:26126393-26126443	HEEpiC	esophagus:	n/a
2	chr12:26126393-26126443	SK-N-SH	brain:	n/a
3	chr12:26126393-26126443	HEK293	kidney:	embryo
4	chr12:26126393-26126443	ECC-1	luminal epithelium:	n/a
5	chr12:26126393-26126443	HCT-116	colon:	n/a
6	chr12:26126393-26126443	HMEC	breast:	n/a
7	chr12:26126393-26126443	NHDF-neo	bronchial:	n/a
8	chr12:26126393-26126443	GM19239	blood:	n/a
9	chr12:26126393-26126443	HUVEC	blood vessel:	n/a
10	chr12:26126393-26126443	AG09319	gingival:	n/a
11	chr12:26126393-26126443	K562	blood:	n/a
12	chr12:26126393-26126443	NH-A	brain:	n/a
13	chr12:26126393-26126443	HRCEpiC	kidney:	n/a
14	chr12:26126393-26126443	HL-60	blood:	n/a
15	chr12:26126393-26126443	A549	lung:	n/a
16	chr12:26126393-26126443	HIPEpiC	eye:	n/a
17	chr12:26126393-26126443	RPTEC	kidney:	n/a
18	chr12:26126393-26126443	NB4	blood:	n/a
19	chr12:26126393-26126443	BJ	skin:	n/a
20	chr12:26126393-26126443	PANC-1	pancreas:	n/a
21	chr12:26126393-26126443	GM12878	blood:	n/a
22	chr12:26126393-26126443	AG09309	skin:	n/a
23	chr12:26126393-26126443	NT2-D1	testis:	n/a
24	chr12:26126393-26126443	AG04450	lung:	fetal
25	chr12:26126393-26126443	GM06990	blood:	n/a
26	chr12:26126393-26126443	ovcar-3	ovarian:	n/a
27	chr12:26126393-26126443	PrEC	prostate:	n/a
28	chr12:26126393-26126443	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:26126393-26126443	T-47D	breast:	n/a
30	chr12:26126393-26126443	AoSMC	blood vessel:	n/a
31	chr12:26126393-26126443	PFSK-1	brain:	n/a
32	chr12:26126393-26126443	Hepatocyte	liver:	n/a
33	chr12:26126393-26126443	BE2_C	brain:	n/a
34	chr12:26126393-26126443	MCF-7	breast:	n/a
35	chr12:26126393-26126443	SKMC	muscle:	n/a
36	chr12:26126393-26126443	ProgFib	skin:	n/a
37	chr12:26126393-26126443	LNCaP	prostate:	n/a
38	chr12:26126393-26126443	IMR90	lung:	fetal
39	chr12:26126393-26126443	AG04449	skin:	fetal
40	chr12:26126393-26126443	MCF10A-Er-Src	breast:	n/a
41	chr12:26126393-26126443	AG10803	skin:	n/a
42	chr12:26126393-26126443	HepG2	liver:	n/a
43	chr12:26126393-26126443	NHBE	bronchial:	n/a
44	chr12:26126393-26126443	HCF	heart:	n/a
45	chr12:26126393-26126443	HAEpiC	amniotic membrane:	n/a
46	chr12:26126393-26126443	U87	brain:	n/a
47	chr12:26126393-26126443	HCPEpiC	choroid plexus:	n/a
48	chr12:26126393-26126443	Hela-S3	cervix:	n/a
49	chr12:26126393-26126443	SAEC	small airway:	n/a
50	chr12:26126393-26126443	HRE	kidney:	n/a

No data

Variant related genes	Relation type
RASSF8	TF binding region
RASSF8	CpG island

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10771249	0.81[ASN][1000 genomes]
rs10771251	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771252	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771253	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10771256	0.87[ASN][1000 genomes]
rs10842641	0.82[ASN][1000 genomes]
rs10842642	0.81[ASN][1000 genomes]
rs10842645	0.82[ASN][1000 genomes]
rs10842646	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10842647	0.82[ASN][1000 genomes]
rs10842648	0.82[ASN][1000 genomes]
rs10842650	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048363	0.82[ASN][1000 genomes]
rs11048364	0.82[ASN][1000 genomes]
rs11048365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11048367	0.82[ASN][1000 genomes]
rs11048368	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11048385	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1874349	0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2063620	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6487522	0.82[ASN][1000 genomes]
rs7964657	0.82[ASN][1000 genomes]
rs7971740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7977148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7979763	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758300	chr12:25992331-26161116	Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
2	esv2759886	chr12:25992331-26161116	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	38 gene(s)	inside rSNPs	diseases
3	nsv898931	chr12:26123345-26192936	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:26113400-26128800	Weak transcription	HSMM	muscle
2	chr12:26114000-26126600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr12:26114000-26128000	Weak transcription	Fetal Intestine Small	intestine
4	chr12:26115000-26127800	Weak transcription	Fetal Kidney	kidney
5	chr12:26117200-26130200	Weak transcription	Fetal Heart	heart
6	chr12:26117400-26126600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr12:26117600-26150000	Weak transcription	Hela-S3	cervix
8	chr12:26118400-26131600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:26119600-26130200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:26120000-26127400	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:26121000-26131600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:26121200-26129600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:26122400-26128200	Enhancers	Osteobl	bone
14	chr12:26122600-26126800	Enhancers	Muscle Satellite Cultured Cells	--
15	chr12:26122600-26127200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:26123200-26127000	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr12:26123400-26129400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr12:26123800-26128800	Weak transcription	Spleen	Spleen
19	chr12:26123800-26129000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:26123800-26129200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:26123800-26134000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr12:26123800-26134200	Weak transcription	Gastric	stomach
23	chr12:26123800-26137200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr12:26124200-26126400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr12:26124200-26129400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:26124400-26126600	Weak transcription	Lung	lung
27	chr12:26124400-26128800	Weak transcription	Esophagus	oesophagus
28	chr12:26124400-26128800	Enhancers	NHDF-Ad	bronchial
29	chr12:26124400-26138000	Weak transcription	Fetal Intestine Large	intestine
30	chr12:26124600-26126400	Enhancers	NHLF	lung
31	chr12:26124800-26127600	Weak transcription	HUVEC	blood vessel
32	chr12:26124800-26129200	Enhancers	Colon Smooth Muscle	Colon
33	chr12:26124800-26130800	Weak transcription	Fetal Lung	lung
34	chr12:26125000-26126400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:26125000-26126400	Weak transcription	Left Ventricle	heart
36	chr12:26125000-26126400	Weak transcription	Psoas Muscle	Psoas
37	chr12:26125000-26126400	Enhancers	Stomach Smooth Muscle	stomach
38	chr12:26125000-26126800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:26125000-26128600	Weak transcription	Adipose Nuclei	Adipose
40	chr12:26125000-26129000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr12:26125000-26130800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:26125000-26138600	Weak transcription	Pancreas	Pancrea
43	chr12:26125200-26128000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr12:26125600-26126400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:26125600-26126400	Enhancers	HMEC	breast
46	chr12:26125600-26126400	Enhancers	NHEK	skin
47	chr12:26125600-26127000	Enhancers	Rectal Smooth Muscle	rectum
48	chr12:26125800-26126800	Enhancers	Brain Substantia Nigra	brain
49	chr12:26125800-26129000	Enhancers	Brain Hippocampus Middle	brain
50	chr12:26125800-26129600	Enhancers	Right Atrium	heart

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