Variant report

Variant	rs528004033
Chromosome Location	chr12:51592119-51592120
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:4)
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	chr12:51592080-51592130	U87	brain:	n/a
2	chr12:51592080-51592130	LNCaP	prostate:	n/a
3	chr12:51592080-51592130	SK-N-MC	brain:	n/a
4	chr12:51592080-51592130	K562	blood:	n/a
5	chr12:51592080-51592130	NH-A	brain:	n/a
6	chr12:51592080-51592130	NHDF-neo	bronchial:	n/a
7	chr12:51592080-51592130	GM12892	blood:	n/a
8	chr12:51592080-51592130	PrEC	prostate:	n/a
9	chr12:51592080-51592130	NHBE	bronchial:	n/a
10	chr12:51592080-51592130	H1-hESC	embryonic stem cell:	embryo
11	chr12:51592080-51592130	NB4	blood:	n/a
12	chr12:51592080-51592130	GM19239	blood:	n/a
13	chr12:51592080-51592130	HIPEpiC	eye:	n/a
14	chr12:51592080-51592130	SK-N-SH	brain:	n/a
15	chr12:51592080-51592130	ProgFib	skin:	n/a
16	chr12:51592080-51592130	BE2_C	brain:	n/a
17	chr12:51592080-51592130	HL-60	blood:	n/a
18	chr12:51592080-51592130	IMR90	lung:	fetal
19	chr12:51592080-51592130	T-47D	breast:	n/a
20	chr12:51592080-51592130	BJ	skin:	n/a
21	chr12:51592080-51592130	SAEC	small airway:	n/a
22	chr12:51592080-51592130	HCT-116	colon:	n/a
23	chr12:51592080-51592130	Caco-2	colon:	n/a
24	chr12:51592080-51592130	AG10803	skin:	n/a
25	chr12:51592080-51592130	HEEpiC	esophagus:	n/a
26	chr12:51592080-51592130	ovcar-3	ovarian:	n/a
27	chr12:51592080-51592130	GM06990	blood:	n/a
28	chr12:51592080-51592130	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:51592080-51592130	HRPEpiC	eye:	n/a
30	chr12:51592080-51592130	MCF-7	breast:	n/a
31	chr12:51592080-51592130	HepG2	liver:	n/a
32	chr12:51592080-51592130	HRCEpiC	kidney:	n/a
33	chr12:51592080-51592130	Hela-S3	cervix:	n/a
34	chr12:51592080-51592130	HEK293	kidney:	embryo
35	chr12:51592080-51592130	GM12891	blood:	n/a
36	chr12:51592080-51592130	AoSMC	blood vessel:	n/a
37	chr12:51592080-51592130	NT2-D1	testis:	n/a
38	chr12:51592080-51592130	SKMC	muscle:	n/a
39	chr12:51592080-51592130	HCPEpiC	choroid plexus:	n/a
40	chr12:51592080-51592130	HAEpiC	amniotic membrane:	n/a
41	chr12:51592080-51592130	HRE	kidney:	n/a
42	chr12:51592080-51592130	ECC-1	luminal epithelium:	n/a
43	chr12:51592080-51592130	CMK	blood:	n/a
44	chr12:51592080-51592130	GM12878	blood:	n/a
45	chr12:51592080-51592130	A549	lung:	n/a
46	chr12:51592080-51592130	HCF	heart:	n/a
47	chr12:51592080-51592130	AG04450	lung:	fetal
48	chr12:51592080-51592130	HMEC	breast:	n/a
49	chr12:51592080-51592130	AG09309	skin:	n/a
50	chr12:51592080-51592130	AG04449	skin:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr12:51566003..51568547-chr12:51591990..51595130,3	K562	blood:
2	chr12:51577036..51579030-chr12:51592102..51594138,2	MCF-7	breast:
3	chr12:51476096..51479039-chr12:51591968..51594960,3	K562	blood:
4	chr12:51475955..51479039-chr12:51590902..51594960,4	K562	blood:

No data

Variant related genes	Relation type
POU6F1	CpG island
ENSG00000110925	Chromatin interaction
ENSG00000135457	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	esv34039	chr12:51326702-51671911	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
2	nsv558876	chr12:51591367-51612730	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51567400-51610600	Weak transcription	Right Atrium	heart
2	chr12:51578200-51596800	Weak transcription	Fetal Lung	lung
3	chr12:51580600-51595800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr12:51580800-51596800	Weak transcription	Primary T cells from cord blood	blood
5	chr12:51581000-51593200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:51581400-51600400	Weak transcription	Psoas Muscle	Psoas
7	chr12:51581400-51610200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:51581800-51596600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:51581800-51610600	Weak transcription	Colonic Mucosa	Colon
10	chr12:51582000-51592600	Weak transcription	Fetal Intestine Large	intestine
11	chr12:51582000-51597000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr12:51582200-51593000	Strong transcription	Brain Hippocampus Middle	brain
13	chr12:51582200-51594000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:51582200-51608000	Weak transcription	NHLF	lung
15	chr12:51582400-51593000	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:51582400-51594800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:51582400-51600000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:51582400-51600600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr12:51583400-51594200	Strong transcription	Fetal Stomach	stomach
20	chr12:51583400-51602400	Weak transcription	Fetal Brain Male	brain
21	chr12:51583600-51598400	Weak transcription	Osteobl	bone
22	chr12:51584000-51597000	Weak transcription	Left Ventricle	heart
23	chr12:51584400-51610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr12:51584600-51594600	Strong transcription	Fetal Muscle Leg	muscle
25	chr12:51584600-51596600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:51585000-51610200	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:51585000-51610800	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:51585400-51592400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:51585400-51610200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:51585800-51596600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr12:51585800-51596800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr12:51585800-51601400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr12:51585800-51610400	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr12:51586000-51610200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:51586200-51592600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr12:51586200-51594000	Weak transcription	Liver	Liver
37	chr12:51586400-51610200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:51587200-51596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr12:51588200-51595000	Strong transcription	Brain Germinal Matrix	brain
40	chr12:51588400-51592400	Strong transcription	Brain Anterior Caudate	brain
41	chr12:51588400-51594200	Strong transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:51588600-51592200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:51588600-51594000	Strong transcription	Brain Cingulate Gyrus	brain
44	chr12:51588800-51592200	Strong transcription	Ovary	ovary
45	chr12:51588800-51595000	Strong transcription	Fetal Brain Female	brain
46	chr12:51589000-51594200	Strong transcription	Stomach Smooth Muscle	stomach
47	chr12:51590000-51592200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:51590000-51592400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:51590000-51592400	Strong transcription	Lung	lung
50	chr12:51590200-51594000	Strong transcription	Skeletal Muscle Male	skeletal muscle

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