Variant report

Variant	rs576457994
Chromosome Location	chr12:50975958-50975959
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:50974097..50976860-chr12:51155046..51157594,2	MCF-7	breast:
2	chr12:50975357..50978309-chr12:50978600..50980737,2	K562	blood:
3	chr12:50974887..50977469-chr12:51012857..51015766,3	MCF-7	breast:
4	chr12:50961060..50963174-chr12:50973833..50976481,2	MCF-7	breast:
5	chr12:50970224..50973931-chr12:50975252..50979734,4	MCF-7	breast:
6	chr12:50926684..50928595-chr12:50975445..50977856,2	MCF-7	breast:
7	chr12:50919251..50921219-chr12:50974767..50977013,2	MCF-7	breast:
8	chr12:50958807..50961087-chr12:50974320..50976145,2	K562	blood:
9	chr12:50974915..50976857-chr12:50978600..50980892,2	K562	blood:
10	chr12:50973996..50977053-chr12:50977194..50979673,3	MCF-7	breast:
11	chr12:50964684..50966420-chr12:50974065..50976382,2	MCF-7	breast:
12	chr12:50973979..50976902-chr12:51009398..51011703,2	MCF-7	breast:
13	chr12:50963922..50966119-chr12:50973720..50976501,2	MCF-7	breast:
14	chr12:50975463..50977998-chr12:50988989..50993005,3	K562	blood:
15	chr12:50974754..50976788-chr12:50985941..50989901,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1820967	chr12:50856613-51002088	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3480918	chr12:50971785-50977483	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3480874	chr12:50972710-50976058	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv558849	chr12:50973897-50978255	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv558850	chr12:50973897-50983771	Genic enhancers Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv1816169	chr12:50973897-51002088	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv1817171	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv1821299	chr12:50973897-51002088	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	esv1822840	chr12:50973897-51015509	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv558855	chr12:50974470-50978255	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
11	nsv558858	chr12:50974541-50978255	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50959000-50976800	Weak transcription	Primary T cells from cord blood	blood
2	chr12:50962400-50983200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:50967200-50978400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:50967200-50983000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:50967400-50991200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr12:50967400-50991200	Weak transcription	Aorta	Aorta
7	chr12:50968400-50976400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr12:50968600-50983000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr12:50968800-50982200	Weak transcription	Fetal Brain Female	brain
10	chr12:50968800-50989000	Weak transcription	Fetal Intestine Small	intestine
11	chr12:50968800-50997400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:50969000-50983200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:50969000-50983400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:50969400-50983400	Weak transcription	NHLF	lung
15	chr12:50969600-50976800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:50969600-50978200	Weak transcription	Fetal Kidney	kidney
17	chr12:50969600-50978400	Weak transcription	Fetal Stomach	stomach
18	chr12:50969600-50981000	Weak transcription	Fetal Intestine Large	intestine
19	chr12:50969600-50983400	Weak transcription	HSMMtube	muscle
20	chr12:50969600-50983600	Weak transcription	Adipose Nuclei	Adipose
21	chr12:50969600-50997400	Weak transcription	Stomach Smooth Muscle	stomach
22	chr12:50969800-50982000	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:50969800-50989600	Weak transcription	Colon Smooth Muscle	Colon
24	chr12:50972600-50976000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:50972600-50978200	Enhancers	Brain Substantia Nigra	brain
26	chr12:50972800-50978000	Enhancers	Brain Hippocampus Middle	brain
27	chr12:50973000-50976000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr12:50973000-50976200	Enhancers	Placenta	Placenta
29	chr12:50973400-50976000	Enhancers	Brain Anterior Caudate	brain
30	chr12:50973400-50983200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr12:50973600-50976000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr12:50973600-50976000	Enhancers	Pancreas	Pancrea
33	chr12:50973600-50976000	Enhancers	Osteobl	bone
34	chr12:50973600-50976200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:50973600-50976400	Enhancers	NH-A	brain
36	chr12:50973600-50976600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr12:50973600-50977000	Enhancers	Placenta Amnion	Placenta Amnion
38	chr12:50973600-50977400	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr12:50973600-50978000	Enhancers	Brain Cingulate Gyrus	brain
40	chr12:50973800-50980200	Weak transcription	Fetal Brain Male	brain
41	chr12:50973800-50983200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr12:50973800-50983200	Weak transcription	HUVEC	blood vessel
43	chr12:50974000-50976400	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr12:50974000-50978600	Weak transcription	Spleen	Spleen
45	chr12:50974000-50979000	Weak transcription	Right Ventricle	heart
46	chr12:50974000-50981000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr12:50974000-50981000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr12:50974000-51011800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr12:50974400-50976000	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr12:50974400-50976000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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