Variant report

Variant	rs571807250
Chromosome Location	chr12:122185297-122185298
allele	-/CA
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:122149421..122152814-chr12:122185119..122186671,3	MCF-7	breast:
2	chr12:122184924..122187179-chr12:122189642..122193871,5	K562	blood:
3	chr12:122185135..122187179-chr12:122190114..122193871,4	K562	blood:
4	chr12:122184835..122196012-chr12:122235281..122245445,27	MCF-7	breast:
5	chr12:122181102..122183945-chr12:122184844..122187780,3	MCF-7	breast:
6	chr12:121836861..121838700-chr12:122185043..122186944,2	K562	blood:
7	chr12:122147215..122155218-chr12:122185094..122190846,22	MCF-7	breast:
8	chr12:122181727..122184365-chr12:122185006..122187114,3	MCF-7	breast:
9	chr12:122180307..122183056-chr12:122185275..122189745,5	K562	blood:
10	chr12:122185267..122187971-chr12:122239677..122241444,2	MCF-7	breast:
11	chr12:122185243..122188214-chr12:122238983..122240823,2	K562	blood:
12	chr12:122184667..122189513-chr12:122211148..122219682,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089053	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000139718	Chromatin interaction
ENSG00000139725	Chromatin interaction
ENSG00000272849	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv1040169	chr12:122096825-122209555	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv560459	chr12:122167095-122185780	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
4	nsv899566	chr12:122167095-122265106	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
5	nsv560460	chr12:122177322-122185780	Weak transcription Enhancers Strong transcription Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv560461	chr12:122177322-122185846	Weak transcription Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	nsv560462	chr12:122177322-122186071	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv3500918	chr12:122183269-122188067	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv3495976	chr12:122184069-122186867	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	esv2625237	chr12:122184959-122186755	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	esv3500929	chr12:122184987-122185838	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	esv3500940	chr12:122184987-122185838	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
13	esv1943412	chr12:122184997-122186041	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	esv3495977	chr12:122185131-122185944	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	esv3495978	chr12:122185131-122185944	Weak transcription Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
16	esv13281	chr12:122185141-122186306	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
17	esv17417	chr12:122185231-122185766	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
18	nsv560463	chr12:122185258-122185616	Weak transcription	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
19	nsv560464	chr12:122185258-122185780	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
20	nsv560465	chr12:122185258-122185846	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
21	nsv560466	chr12:122185258-122185899	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
22	nsv560467	chr12:122185258-122185957	Weak transcription	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
23	nsv560468	chr12:122185258-122186008	Weak transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
24	nsv560469	chr12:122185258-122186071	Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
25	nsv560470	chr12:122185258-122186268	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
26	nsv560471	chr12:122185258-122186317	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
27	nsv560472	chr12:122185258-122190385	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122151600-122186200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr12:122152000-122188000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr12:122152200-122186400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr12:122152200-122188000	Weak transcription	Brain Germinal Matrix	brain
5	chr12:122152200-122188000	Weak transcription	Dnd41	blood
6	chr12:122152200-122191600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:122152200-122191600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr12:122152200-122200200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr12:122152400-122188000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:122152800-122186200	Weak transcription	Pancreas	Pancrea
11	chr12:122154200-122200400	Weak transcription	Psoas Muscle	Psoas
12	chr12:122155200-122186400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr12:122155600-122186200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:122158800-122186200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:122158800-122186200	Weak transcription	NHDF-Ad	bronchial
16	chr12:122158800-122186400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:122159000-122186200	Weak transcription	NH-A	brain
18	chr12:122159200-122186400	Weak transcription	HSMM	muscle
19	chr12:122159400-122194800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr12:122163400-122186200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:122163600-122186200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:122163600-122186200	Weak transcription	Liver	Liver
23	chr12:122163600-122186600	Weak transcription	HSMMtube	muscle
24	chr12:122163600-122188000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr12:122163600-122188200	Weak transcription	Brain Anterior Caudate	brain
26	chr12:122163800-122186200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:122164800-122188200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr12:122166800-122186200	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr12:122166800-122186200	Weak transcription	Thymus	Thymus
30	chr12:122166800-122186400	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:122167200-122186400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr12:122167600-122186200	Weak transcription	Spleen	Spleen
33	chr12:122170400-122186200	Weak transcription	Right Atrium	heart
34	chr12:122170600-122186200	Weak transcription	Placenta	Placenta
35	chr12:122172000-122186200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:122174200-122191800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:122176600-122186400	Weak transcription	Hela-S3	cervix
38	chr12:122176600-122187200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:122177800-122186200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr12:122179200-122186200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr12:122179800-122211000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr12:122180000-122186200	Weak transcription	Primary hematopoietic stem cells	blood
43	chr12:122180000-122186200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:122180000-122186200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr12:122180200-122191400	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:122180800-122186200	Weak transcription	Esophagus	oesophagus
47	chr12:122181000-122186200	Weak transcription	HUVEC	blood vessel
48	chr12:122181200-122186200	Weak transcription	Left Ventricle	heart
49	chr12:122181200-122186200	Weak transcription	Ovary	ovary
50	chr12:122181200-122186200	Weak transcription	HepG2	liver

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