Variant report

Variant	rs12310686
Chromosome Location	chr12:57584744-57584745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:57582883-57585896	U87	brain:	n/a	n/a
2	POLR2A	chr12:57584357-57585330	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr12:57582803-57586073	U87	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57584720-57584770	GM12891	blood:	n/a
2	chr12:57584720-57584770	HL-60	blood:	n/a
3	chr12:57584720-57584770	NHDF-neo	bronchial:	n/a
4	chr12:57584720-57584770	Jurkat	blood:	n/a
5	chr12:57584720-57584770	Hepatocyte	liver:	n/a
6	chr12:57584720-57584770	GM12878	blood:	n/a
7	chr12:57584720-57584770	AG09309	skin:	n/a
8	chr12:57584720-57584770	SK-N-MC	brain:	n/a
9	chr12:57584720-57584770	AG04450	lung:	fetal
10	chr12:57584720-57584770	PrEC	prostate:	n/a
11	chr12:57584720-57584770	ProgFib	skin:	n/a
12	chr12:57584720-57584770	HAEpiC	amniotic membrane:	n/a
13	chr12:57584720-57584770	NB4	blood:	n/a
14	chr12:57584720-57584770	SKMC	muscle:	n/a
15	chr12:57584720-57584770	PFSK-1	brain:	n/a
16	chr12:57584720-57584770	NT2-D1	testis:	n/a
17	chr12:57584720-57584770	CMK	blood:	n/a
18	chr12:57584720-57584770	GM12892	blood:	n/a
19	chr12:57584720-57584770	HCPEpiC	choroid plexus:	n/a
20	chr12:57584720-57584770	MCF10A-Er-Src	breast:	n/a
21	chr12:57584720-57584770	GM06990	blood:	n/a
22	chr12:57584720-57584770	HRE	kidney:	n/a
23	chr12:57584720-57584770	H1-hESC	embryonic stem cell:	embryo
24	chr12:57584720-57584770	SK-N-SH	brain:	n/a
25	chr12:57584720-57584770	NH-A	brain:	n/a
26	chr12:57584720-57584770	ovcar-3	ovarian:	n/a
27	chr12:57584720-57584770	Caco-2	colon:	n/a
28	chr12:57584720-57584770	HRCEpiC	kidney:	n/a
29	chr12:57584720-57584770	Hela-S3	cervix:	n/a
30	chr12:57584720-57584770	NHBE	bronchial:	n/a
31	chr12:57584720-57584770	T-47D	breast:	n/a
32	chr12:57584720-57584770	AoSMC	blood vessel:	n/a
33	chr12:57584720-57584770	HCF	heart:	n/a
34	chr12:57584720-57584770	BJ	skin:	n/a
35	chr12:57584720-57584770	AG10803	skin:	n/a
36	chr12:57584720-57584770	BE2_C	brain:	n/a
37	chr12:57584720-57584770	MCF-7	breast:	n/a
38	chr12:57584720-57584770	HepG2	liver:	n/a
39	chr12:57584720-57584770	GM19239	blood:	n/a
40	chr12:57584720-57584770	HEEpiC	esophagus:	n/a
41	chr12:57584720-57584770	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:57584720-57584770	HCT-116	colon:	n/a
43	chr12:57584720-57584770	HEK293	kidney:	embryo
44	chr12:57584720-57584770	HUVEC	blood vessel:	n/a
45	chr12:57584720-57584770	AG09319	gingival:	n/a
46	chr12:57584720-57584770	RPTEC	kidney:	n/a
47	chr12:57584720-57584770	HRPEpiC	eye:	n/a
48	chr12:57584720-57584770	HNPCEpiC	eye:	n/a
49	chr12:57584720-57584770	ECC-1	luminal epithelium:	n/a
50	chr12:57584720-57584770	IMR90	lung:	fetal

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:57502051..57503963-chr12:57583125..57585468,2	K562	blood:
2	chr12:57584008..57585901-chr12:57591267..57593221,2	MCF-7	breast:
3	chr12:57582255..57585186-chr12:57590822..57593487,2	MCF-7	breast:
4	chr12:57583820..57586424-chr12:57618362..57620239,2	K562	blood:

No data

Variant related genes	Relation type
MIR1228	TF binding region
MIR1228	CpG island
ENSG00000166888	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10083191	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11172151	1.00[AMR][1000 genomes]
rs11172167	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11172213	1.00[AMR][1000 genomes]
rs12296737	1.00[AMR][1000 genomes]
rs12310527	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12312567	1.00[AMR][1000 genomes]
rs12312780	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12314262	1.00[AMR][1000 genomes]
rs12315459	1.00[AMR][1000 genomes]
rs12316507	1.00[AMR][1000 genomes]
rs12317318	1.00[AMR][1000 genomes]
rs12317897	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs12318999	1.00[AMR][1000 genomes]
rs12319006	1.00[AMR][1000 genomes]
rs12320772	1.00[AMR][1000 genomes]
rs12322158	1.00[AMR][1000 genomes]
rs12322514	1.00[AMR][1000 genomes]
rs12322636	1.00[AMR][1000 genomes]
rs13377950	1.00[AMR][1000 genomes]
rs17119482	1.00[AMR][1000 genomes]
rs3024944	1.00[AMR][1000 genomes]
rs34000745	1.00[AMR][1000 genomes]
rs34660894	1.00[AMR][1000 genomes]
rs35827450	0.95[AFR][1000 genomes]
rs35958371	1.00[AMR][1000 genomes]
rs9971718	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040850	chr12:57055011-57679209	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	nsv559023	chr12:57530670-57616061	Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv518980	chr12:57532982-57637593	Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv899112	chr12:57535266-57601388	Weak transcription Genic enhancers Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv525873	chr12:57535266-57616013	Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv899113	chr12:57543572-57601388	Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA	12 gene(s)	inside rSNPs	diseases
7	nsv899114	chr12:57556768-57587839	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv1810281	chr12:57558657-57641094	Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	esv1827238	chr12:57561918-57641094	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	esv1796377	chr12:57577246-57638936	Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv1809338	chr12:57580227-57628338	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv1827692	chr12:57582852-57651345	Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
13	esv3361030	chr12:57583385-57587783	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
14	nsv519293	chr12:57583672-57637593	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 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	chr12:57541600-57606600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:57541800-57607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr12:57547000-57606400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:57552800-57606800	Strong transcription	Fetal Intestine Large	intestine
5	chr12:57552800-57607000	Strong transcription	Liver	Liver
6	chr12:57553200-57607400	Strong transcription	Fetal Intestine Small	intestine
7	chr12:57557400-57606800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:57560800-57606200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:57560800-57606600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr12:57565800-57606600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:57566000-57604200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr12:57566600-57606200	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:57569800-57600800	Strong transcription	Brain Inferior Temporal Lobe	brain
14	chr12:57570200-57606800	Strong transcription	Fetal Stomach	stomach
15	chr12:57570600-57606800	Strong transcription	Osteobl	bone
16	chr12:57570800-57605400	Strong transcription	Muscle Satellite Cultured Cells	--
17	chr12:57571000-57585200	Weak transcription	Fetal Brain Male	brain
18	chr12:57574400-57586400	Weak transcription	Small Intestine	intestine
19	chr12:57575600-57585400	Strong transcription	NHLF	lung
20	chr12:57576000-57586400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:57576200-57605600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:57576200-57606400	Strong transcription	NHDF-Ad	bronchial
23	chr12:57576800-57604800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr12:57576800-57605000	Strong transcription	HSMMtube	muscle
25	chr12:57576800-57606600	Strong transcription	HepG2	liver
26	chr12:57576800-57607000	Strong transcription	Brain Germinal Matrix	brain
27	chr12:57577000-57585200	Strong transcription	H9 Cell Line	embryonic stem cell
28	chr12:57577000-57585400	Strong transcription	Gastric	stomach
29	chr12:57577000-57585800	Strong transcription	Spleen	Spleen
30	chr12:57577000-57591600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr12:57577000-57600600	Strong transcription	Brain Cingulate Gyrus	brain
32	chr12:57577000-57600600	Strong transcription	Brain Substantia Nigra	brain
33	chr12:57577000-57606000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:57577000-57606400	Strong transcription	H1 Cell Line	embryonic stem cell
35	chr12:57577000-57606400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:57577000-57606400	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr12:57577000-57606600	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:57577000-57606800	Strong transcription	Colonic Mucosa	Colon
39	chr12:57577000-57606800	Strong transcription	Duodenum Mucosa	Duodenum
40	chr12:57577000-57606800	Strong transcription	Ovary	ovary
41	chr12:57577200-57585400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:57577200-57586600	Strong transcription	Brain Anterior Caudate	brain
43	chr12:57577200-57588800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:57577200-57591200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr12:57577200-57605800	Strong transcription	Placenta Amnion	Placenta Amnion
46	chr12:57577200-57606000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr12:57577200-57606400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr12:57577200-57606400	Strong transcription	Aorta	Aorta
49	chr12:57577200-57606400	Strong transcription	Rectal Mucosa Donor 29	rectum
50	chr12:57577200-57606400	Strong transcription	Stomach Smooth Muscle	stomach

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