Variant report

Variant	rs12307919
Chromosome Location	chr12:120741668-120741669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:120741653-120741703	NB4	blood:	n/a
2	chr12:120741653-120741703	GM19239	blood:	n/a
3	chr12:120741653-120741703	HRPEpiC	eye:	n/a
4	chr12:120741653-120741703	ECC-1	luminal epithelium:	n/a
5	chr12:120741653-120741703	HCPEpiC	choroid plexus:	n/a
6	chr12:120741653-120741703	HepG2	liver:	n/a
7	chr12:120741653-120741703	HUVEC	blood vessel:	n/a
8	chr12:120741653-120741703	SK-N-MC	brain:	n/a
9	chr12:120741653-120741703	A549	lung:	n/a
10	chr12:120741653-120741703	IMR90	lung:	fetal
11	chr12:120741653-120741703	HRE	kidney:	n/a
12	chr12:120741653-120741703	PFSK-1	brain:	n/a
13	chr12:120741653-120741703	Hepatocyte	liver:	n/a
14	chr12:120741653-120741703	Hela-S3	cervix:	n/a
15	chr12:120741653-120741703	RPTEC	kidney:	n/a
16	chr12:120741653-120741703	ProgFib	skin:	n/a
17	chr12:120741653-120741703	LNCaP	prostate:	n/a
18	chr12:120741653-120741703	MCF10A-Er-Src	breast:	n/a
19	chr12:120741653-120741703	MCF-7	breast:	n/a
20	chr12:120741653-120741703	Jurkat	blood:	n/a
21	chr12:120741653-120741703	U87	brain:	n/a
22	chr12:120741653-120741703	GM12878	blood:	n/a
23	chr12:120741653-120741703	NHBE	bronchial:	n/a
24	chr12:120741653-120741703	AG09309	skin:	n/a
25	chr12:120741653-120741703	CMK	blood:	n/a
26	chr12:120741653-120741703	AoSMC	blood vessel:	n/a
27	chr12:120741653-120741703	AG10803	skin:	n/a
28	chr12:120741653-120741703	PANC-1	pancreas:	n/a
29	chr12:120741653-120741703	BE2_C	brain:	n/a
30	chr12:120741653-120741703	ovcar-3	ovarian:	n/a
31	chr12:120741653-120741703	SK-N-SH_RA	brain:	n/a
32	chr12:120741653-120741703	GM12892	blood:	n/a
33	chr12:120741653-120741703	HEK293	kidney:	embryo
34	chr12:120741653-120741703	GM12891	blood:	n/a
35	chr12:120741653-120741703	HCF	heart:	n/a
36	chr12:120741653-120741703	HCT-116	colon:	n/a
37	chr12:120741653-120741703	GM06990	blood:	n/a
38	chr12:120741653-120741703	HIPEpiC	eye:	n/a
39	chr12:120741653-120741703	SAEC	small airway:	n/a
40	chr12:120741653-120741703	Caco-2	colon:	n/a
41	chr12:120741653-120741703	HCM	heart:	n/a
42	chr12:120741653-120741703	HMEC	breast:	n/a
43	chr12:120741653-120741703	HEEpiC	esophagus:	n/a
44	chr12:120741653-120741703	T-47D	breast:	n/a
45	chr12:120741653-120741703	SK-N-SH	brain:	n/a
46	chr12:120741653-120741703	AG04450	lung:	fetal
47	chr12:120741653-120741703	AG09319	gingival:	n/a
48	chr12:120741653-120741703	AG04449	skin:	fetal
49	chr12:120741653-120741703	HAEpiC	amniotic membrane:	n/a
50	chr12:120741653-120741703	HRCEpiC	kidney:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:120737630..120743237-chr12:120750628..120756565,17	MCF-7	breast:

No data

Variant related genes	Relation type
SIRT4	CpG island
ENSG00000252659	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11065059	0.83[AFR][1000 genomes]
rs12311126	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs17431446	1.00[CHD][hapmap]
rs25663	0.91[AFR][1000 genomes]
rs3864938	1.00[CHB][hapmap]
rs7136961	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv832530	chr12:120586069-120758175	Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS 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	484 gene(s)	inside rSNPs	diseases
3	nsv1035698	chr12:120645330-120777580	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
4	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases
5	nsv560435	chr12:120695141-120769657	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
6	nsv899556	chr12:120695141-120779931	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	433 gene(s)	inside rSNPs	diseases
7	esv1799498	chr12:120725939-120745740	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	429 gene(s)	inside rSNPs	diseases
8	esv2763006	chr12:120731346-120750746	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120740000-120742200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:120740400-120754600	Weak transcription	Stomach Mucosa	stomach
3	chr12:120740400-120754800	Weak transcription	Spleen	Spleen
4	chr12:120740600-120742000	Enhancers	Fetal Brain Male	brain
5	chr12:120740600-120754600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:120740600-120754800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:120740800-120742400	Enhancers	Pancreas	Pancrea
8	chr12:120740800-120747000	Weak transcription	Colonic Mucosa	Colon
9	chr12:120741000-120741800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:120741000-120741800	Enhancers	Left Ventricle	heart
11	chr12:120741000-120742600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr12:120741000-120744000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:120741000-120744400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:120741000-120745400	Weak transcription	Primary B cells from cord blood	blood
15	chr12:120741000-120747000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr12:120741000-120754200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr12:120741000-120754200	Weak transcription	Placenta	Placenta
18	chr12:120741000-120754400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:120741000-120754400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:120741000-120754600	Weak transcription	Primary T cells from cord blood	blood
21	chr12:120741000-120754600	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr12:120741000-120754600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr12:120741000-120754600	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr12:120741000-120754600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:120741000-120754600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr12:120741000-120754600	Weak transcription	Brain Angular Gyrus	brain
27	chr12:120741000-120754600	Weak transcription	Brain Anterior Caudate	brain
28	chr12:120741000-120754600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr12:120741000-120754600	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:120741000-120754600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:120741000-120754600	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:120741000-120754600	Weak transcription	Fetal Heart	heart
33	chr12:120741000-120754600	Weak transcription	Fetal Intestine Small	intestine
34	chr12:120741000-120754600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:120741000-120754600	Weak transcription	Right Ventricle	heart
36	chr12:120741000-120754600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:120741200-120742000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
38	chr12:120741200-120744200	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:120741200-120753800	Weak transcription	Liver	Liver
40	chr12:120741200-120754200	Weak transcription	Fetal Brain Female	brain
41	chr12:120741200-120754600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:120741400-120742000	Weak transcription	Dnd41	blood
43	chr12:120741400-120742200	Strong transcription	Fetal Stomach	stomach
44	chr12:120741400-120754600	Weak transcription	Brain Germinal Matrix	brain
45	chr12:120741400-120754600	Weak transcription	Thymus	Thymus
46	chr12:120741600-120742000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:120741600-120742000	ZNF genes & repeats	Fetal Thymus	thymus
48	chr12:120741600-120742000	ZNF genes & repeats	Ovary	ovary
49	chr12:120741600-120742200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:120741600-120742600	Strong transcription	Fetal Muscle Leg	muscle

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