Variant report

Variant	rs543481177
Chromosome Location	chr12:4759384-4759385
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	REST	chr12:4757476-4759419	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr12:4759303-4759386	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:4757018..4762059-chr12:4764285..4767290,6	K562	blood:
2	chr12:4756861..4759668-chr12:4760395..4765208,7	MCF-7	breast:
3	chr12:4751073..4755821-chr12:4757118..4761577,5	MCF-7	breast:
4	chr12:4757063..4759938-chr12:4760465..4764038,5	K562	blood:
5	chr12:4754845..4760714-chr12:4761830..4765057,7	MCF-7	breast:
6	chr12:4757573..4759938-chr12:4760465..4764276,3	K562	blood:
7	chr12:4758381..4761405-chr12:4778974..4782071,3	K562	blood:

No data

Variant related genes	Relation type
NDUFA9	TF binding region
AKAP3	TF binding region
ENSG00000255639	Chromatin interaction
ENSG00000256381	Chromatin interaction
ENSG00000139180	Chromatin interaction
ENSG00000111254	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832318	chr12:4655799-4875837	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv898617	chr12:4715082-4768619	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898618	chr12:4726068-4764137	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv898619	chr12:4737715-4771456	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv898620	chr12:4745313-4771456	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv557125	chr12:4748410-4764137	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv1036308	chr12:4748657-4804156	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv898621	chr12:4751798-4768193	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv898622	chr12:4751798-4768619	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv898623	chr12:4751798-4771456	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv898624	chr12:4757474-4769876	Weak transcription Strong transcription Flanking Active TSS Enhancers 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	5 gene(s)	inside rSNPs	diseases
12	nsv557126	chr12:4757809-4768619	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv898625	chr12:4759380-4771682	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:4757200-4759400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr12:4757200-4759400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:4757200-4759400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:4757200-4759400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr12:4757200-4759400	Active TSS	K562	blood
6	chr12:4757200-4759400	Active TSS	NHDF-Ad	bronchial
7	chr12:4757200-4760200	Active TSS	Right Atrium	heart
8	chr12:4757400-4759400	Active TSS	Fetal Intestine Small	intestine
9	chr12:4757400-4759600	Active TSS	H1 Cell Line	embryonic stem cell
10	chr12:4757400-4759600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr12:4757400-4759800	Active TSS	Psoas Muscle	Psoas
12	chr12:4757400-4759800	Active TSS	Right Ventricle	heart
13	chr12:4757600-4759400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr12:4757600-4759400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:4757600-4759400	Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr12:4757600-4759400	Active TSS	HSMM	muscle
17	chr12:4757600-4759600	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr12:4757600-4759600	Active TSS	Left Ventricle	heart
19	chr12:4757600-4760000	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr12:4757600-4760200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr12:4758000-4759400	Active TSS	Fetal Muscle Leg	muscle
22	chr12:4758600-4759400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr12:4758600-4759400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr12:4758600-4759400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr12:4758600-4759600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr12:4758600-4759600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:4758600-4759600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:4758600-4759600	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr12:4758800-4759400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr12:4758800-4759400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:4758800-4759400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr12:4758800-4759400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:4758800-4759400	Flanking Active TSS	Liver	Liver
34	chr12:4758800-4759400	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr12:4758800-4759400	Flanking Active TSS	Colonic Mucosa	Colon
36	chr12:4758800-4759400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
37	chr12:4758800-4759400	Active TSS	HepG2	liver
38	chr12:4758800-4759600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr12:4758800-4759600	Flanking Active TSS	Brain Anterior Caudate	brain
40	chr12:4758800-4759600	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr12:4758800-4759600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:4758800-4759600	Flanking Active TSS	Fetal Brain Male	brain
43	chr12:4758800-4759800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr12:4758800-4759800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:4758800-4759800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
46	chr12:4758800-4759800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:4758800-4759800	Flanking Active TSS	HUVEC	blood vessel
48	chr12:4758800-4760000	Flanking Active TSS	Brain Angular Gyrus	brain
49	chr12:4758800-4760000	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr12:4758800-4760000	Flanking Active TSS	Duodenum Mucosa	Duodenum

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