Variant report

Variant	rs545181072
Chromosome Location	chr12:48200628-48200629
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:48200480-48200630	HCPEpiC	choroid plexus:	n/a	chr12:48200565-48200583
2	ZNF263	chr12:48200499-48200721	HEK293-T-REx	kidney:	n/a	chr12:48200618-48200627 chr12:48200651-48200672
3	MAX	chr12:48200493-48200697	K562	blood:	n/a	chr12:48200553-48200563

No.	Distal block	Cell Line	Cell type
1	chr12:48173557..48179365-chr12:48198461..48203449,6	K562	blood:
2	chr12:48193420..48195604-chr12:48198612..48200670,2	K562	blood:
3	chr12:48200516..48204856-chr12:48204984..48208825,6	K562	blood:

Variant related genes	Relation type
HDAC7	TF binding region
ENSG00000061273	Chromatin interaction
ENSG00000268069	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	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
2	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
3	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
4	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
5	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
7	nsv899060	chr12:48180508-48231430	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	esv3693398	chr12:48186738-48215749	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
9	nsv1048466	chr12:48195350-48262541	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
10	nsv541488	chr12:48195350-48262541	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
11	esv999028	chr12:48199301-48209132	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48179800-48201000	Weak transcription	Dnd41	blood
2	chr12:48182000-48206400	Weak transcription	HepG2	liver
3	chr12:48182400-48202000	Weak transcription	Fetal Brain Male	brain
4	chr12:48183000-48204000	Weak transcription	Fetal Kidney	kidney
5	chr12:48189000-48201000	Weak transcription	NH-A	brain
6	chr12:48190800-48201400	Genic enhancers	Fetal Thymus	thymus
7	chr12:48191000-48201200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr12:48191400-48201400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:48191400-48202800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:48191600-48201600	Genic enhancers	Thymus	Thymus
11	chr12:48192400-48201000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:48192400-48201600	Enhancers	Duodenum Smooth Muscle	Duodenum
13	chr12:48192400-48203200	Enhancers	Right Atrium	heart
14	chr12:48192600-48201400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr12:48193400-48203000	Enhancers	Fetal Heart	heart
16	chr12:48193400-48205000	Weak transcription	Brain Germinal Matrix	brain
17	chr12:48193600-48201400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr12:48193800-48201600	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr12:48194400-48201400	Enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr12:48195200-48201600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr12:48196200-48201600	Enhancers	Primary hematopoietic stem cells	blood
22	chr12:48196600-48201200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr12:48196800-48201600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr12:48196800-48201600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:48197000-48201200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr12:48197000-48201400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:48197000-48201800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:48197200-48201200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:48197200-48201800	Enhancers	Rectal Smooth Muscle	rectum
30	chr12:48197200-48203400	Enhancers	Psoas Muscle	Psoas
31	chr12:48197600-48200800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:48197600-48201200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr12:48197800-48202600	Weak transcription	Liver	Liver
34	chr12:48198000-48203200	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:48198200-48200800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:48198200-48201400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr12:48198200-48203400	Enhancers	Right Ventricle	heart
38	chr12:48198400-48201400	Weak transcription	HSMMtube	muscle
39	chr12:48198600-48201200	Weak transcription	HSMM	muscle
40	chr12:48198600-48201600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr12:48198800-48201400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr12:48198800-48201600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr12:48199000-48201200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr12:48199200-48203400	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr12:48199400-48201000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:48199400-48201000	Enhancers	Primary T cells from cord blood	blood
47	chr12:48199400-48201200	Enhancers	Colon Smooth Muscle	Colon
48	chr12:48199400-48201400	Weak transcription	HMEC	breast
49	chr12:48199400-48201800	Enhancers	Adipose Nuclei	Adipose
50	chr12:48199400-48201800	Enhancers	Duodenum Mucosa	Duodenum

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