Variant report

Variant	rs76313965
Chromosome Location	chr12:121077886-121077887
allele	C/T
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	chr12:121077432-121078631	A549	lung:	n/a	chr12:121078304-121078313 chr12:121078301-121078319 chr12:121078304-121078317
2	TEAD4	chr12:121077650-121078209	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr12:121077860-121078010	GM12866	blood:	n/a	n/a
4	CTCF	chr12:121077880-121078030	GM12870	blood:	n/a	n/a
5	ELF1	chr12:121077783-121078551	GM12878	blood:	n/a	chr12:121078317-121078326 chr12:121078208-121078217 chr12:121078455-121078467 chr12:121078414-121078423
6	CTCF	chr12:121077760-121077910	GM12873	blood:	n/a	n/a
7	RAD21	chr12:121077586-121078574	H1-hESC	embryonic stem cell:	n/a	chr12:121078305-121078318
8	CTCF	chr12:121077840-121077990	Caco-2	colon:	n/a	n/a
9	CTCF	chr12:121077840-121077990	HRPEpiC	eye:	n/a	n/a
10	SIN3A	chr12:121077666-121079638	H1-hESC	embryonic stem cell:	n/a	chr12:121078405-121078418 chr12:121079275-121079288
11	CREB1	chr12:121077848-121078507	H1-hESC	embryonic stem cell:	n/a	n/a
12	ZNF263	chr12:121077610-121079764	HEK293-T-REx	kidney:	n/a	chr12:121079219-121079228 chr12:121079301-121079310
13	TEAD4	chr12:121077838-121078479	H1-hESC	embryonic stem cell:	n/a	n/a
14	CTBP2	chr12:121077632-121078448	H1-hESC	embryonic stem cell:	n/a	n/a
15	CREB1	chr12:121077742-121078525	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr12:121077780-121077930	HRE	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121077855..121079516-chr12:121124357..121126482,2	MCF-7	breast:
2	chr12:121074234..121078810-chr12:121086912..121091656,5	K562	blood:
3	chr12:121077883..121078713-chr12:121409304..121410103,2	MCF-7	breast:
4	chr12:121019025..121020943-chr12:121076838..121078875,3	K562	blood:
5	chr12:121071082..121074482-chr12:121074766..121077938,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POP5-1	chr12:121077853-121077956	ENSG00000256008.1
2	lnc-POP5-1	chr12:121077853-121078306	NONHSAT031188

Variant related genes	Relation type
CABP1	TF binding region
ENSG00000110917	Chromatin interaction
ENSG00000167272	Chromatin interaction
ENSG00000157782	Chromatin interaction
ENSG00000272214	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	esv3346909	chr12:121077394-121079942	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	esv3334570	chr12:121077719-121079967	Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121076600-121078000	Weak transcription	Pancreas	Pancrea
2	chr12:121077400-121078200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:121077600-121078000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
4	chr12:121077600-121078000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:121077600-121078000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr12:121077600-121078000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
7	chr12:121077600-121078000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr12:121077600-121078000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr12:121077600-121078000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
10	chr12:121077600-121078000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr12:121077600-121078000	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
12	chr12:121077600-121078200	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:121077600-121078200	Bivalent Enhancer	Fetal Lung	lung
14	chr12:121077600-121078400	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
15	chr12:121077600-121079600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr12:121077600-121079600	Active TSS	Brain Angular Gyrus	brain
17	chr12:121077800-121078000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr12:121077800-121078000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:121077800-121078000	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:121077800-121078000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr12:121077800-121078000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
22	chr12:121077800-121078000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
23	chr12:121077800-121078000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
24	chr12:121077800-121078000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr12:121077800-121078000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
26	chr12:121077800-121078000	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
27	chr12:121077800-121078000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
28	chr12:121077800-121078000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
29	chr12:121077800-121078000	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
30	chr12:121077800-121078000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr12:121077800-121078000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
32	chr12:121077800-121078000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr12:121077800-121078000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:121077800-121078000	Enhancers	Brain Cingulate Gyrus	brain
35	chr12:121077800-121078000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
36	chr12:121077800-121078000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
37	chr12:121077800-121078000	Enhancers	Fetal Brain Male	brain
38	chr12:121077800-121078000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
39	chr12:121077800-121078000	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr12:121077800-121078000	Bivalent Enhancer	Fetal Muscle Leg	muscle
41	chr12:121077800-121078000	Bivalent Enhancer	Fetal Stomach	stomach
42	chr12:121077800-121078000	Bivalent Enhancer	Fetal Thymus	thymus
43	chr12:121077800-121078000	Enhancers	Lung	lung
44	chr12:121077800-121078000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
45	chr12:121077800-121078000	Enhancers	Right Ventricle	heart
46	chr12:121077800-121078000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
47	chr12:121077800-121078200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
48	chr12:121077800-121078200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr12:121077800-121078200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:121077800-121078200	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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