Variant report

Variant	rs7965129
Chromosome Location	chr12:121735407-121735408
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	UBTF	chr12:121733818-121735749	K562	blood:	n/a	n/a
2	CTCF	chr12:121734724-121735409	K562	blood:	n/a	chr12:121734870-121734883
3	POLR2A	chr12:121733059-121735845	H1-hESC	embryonic stem cell:	n/a	n/a
4	MAX	chr12:121733758-121735535	HepG2	liver:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292
5	POLR2A	chr12:121733500-121735738	HepG2	liver:	n/a	n/a
6	JUND	chr12:121735171-121735962	K562	blood:	n/a	chr12:121735634-121735643
7	POLR2A	chr12:121735332-121735588	K562	blood:	n/a	n/a
8	POLR2A	chr12:121734612-121735698	K562	blood:	n/a	n/a
9	TAF1	chr12:121734256-121735638	H1-hESC	embryonic stem cell:	n/a	n/a
10	EP300	chr12:121735116-121735659	K562	blood:	n/a	n/a
11	POLR2A	chr12:121733630-121736125	HepG2	liver:	n/a	n/a
12	HCFC1	chr12:121733545-121735731	Hela-S3	cervix:	n/a	n/a
13	MTA3	chr12:121735127-121735610	GM12878	blood:	n/a	n/a
14	MAZ	chr12:121733266-121735577	K562	blood:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292 chr12:121733285-121733295
15	RCOR1	chr12:121734578-121735606	K562	blood:	n/a	n/a
16	CHD1	chr12:121735042-121735463	H1-hESC	embryonic stem cell:	n/a	n/a
17	NR2F2	chr12:121734672-121735718	K562	blood:	n/a	n/a
18	NRF1	chr12:121734342-121735775	SK-N-SH	brain:	n/a	chr12:121734650-121734657
19	ZNF384	chr12:121735381-121735849	GM12878	blood:	n/a	n/a
20	MAX	chr12:121733577-121735771	K562	blood:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292
21	SIN3AK20	chr12:121735128-121735579	A549	lung:	n/a	n/a
22	TEAD4	chr12:121734630-121735446	K562	blood:	n/a	n/a
23	SIN3A	chr12:121733299-121735666	H1-hESC	embryonic stem cell:	n/a	chr12:121734836-121734847 chr12:121734993-121735004 chr12:121735075-121735088
24	E2F6	chr12:121734566-121735430	A549	lung:	n/a	chr12:121734636-121734645 chr12:121734637-121734644 chr12:121734637-121734644 chr12:121734637-121734644 chr12:121734633-121734645
25	MXI1	chr12:121732878-121735831	SK-N-SH	brain:	n/a	chr12:121734260-121734269
26	MYC	chr12:121733650-121735722	K562	blood:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292
27	WRNIP1	chr12:121735241-121735537	GM12878	blood:	n/a	n/a
28	MAX	chr12:121733594-121735753	HCT-116	colon:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292
29	BHLHE40	chr12:121734705-121735503	K562	blood:	n/a	chr12:121735073-121735089
30	CBX3	chr12:121735240-121735717	K562	blood:	n/a	n/a
31	MYC	chr12:121733751-121735704	K562	blood:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292
32	STAT5A	chr12:121735164-121735454	GM12878	blood:	n/a	chr12:121735218-121735230
33	TBP	chr12:121734191-121735650	HepG2	liver:	n/a	n/a
34	MAX	chr12:121733772-121735481	A549	lung:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292
35	HDAC2	chr12:121734453-121735636	HepG2	liver:	n/a	chr12:121735115-121735123
36	POLR2A	chr12:121735168-121735497	K562	blood:	n/a	n/a
37	ZNF384	chr12:121734810-121735915	K562	blood:	n/a	n/a
38	ZBTB7A	chr12:121735308-121735527	K562	blood:	n/a	n/a
39	POLR2A	chr12:121733644-121735853	K562	blood:	n/a	n/a
40	MAZ	chr12:121733846-121735507	GM12878	blood:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292
41	MAX	chr12:121733635-121735667	HepG2	liver:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292
42	MYC	chr12:121735326-121735418	HepG2	liver:	n/a	n/a
43	MAX	chr12:121733864-121735681	ECC-1	luminal epithelium:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292
44	MXI1	chr12:121733261-121735715	IMR90	lung:	n/a	chr12:121734260-121734269
45	MAZ	chr12:121732918-121735848	IMR90	lung:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292 chr12:121733285-121733295
46	MBD4	chr12:121735141-121735565	HepG2	liver:	n/a	n/a
47	MAX	chr12:121733583-121735696	MCF-7	breast:	n/a	chr12:121734284-121734291 chr12:121734158-121734168 chr12:121734283-121734292
48	CTCF	chr12:121735360-121735510	WERI-Rb-1	eye:	n/a	n/a
49	POLR2A	chr12:121734488-121735808	SK-N-MC	brain:	n/a	n/a
50	MYBL2	chr12:121734704-121735630	HepG2	liver:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:121735363-121735413	AG09319	gingival:	n/a
2	chr12:121735363-121735413	NT2-D1	testis:	n/a
3	chr12:121735396-121735446	PFSK-1	brain:	n/a
4	chr12:121735363-121735413	IMR90	lung:	fetal
5	chr12:121735396-121735446	RPTEC	kidney:	n/a
6	chr12:121735363-121735413	U87	brain:	n/a
7	chr12:121735396-121735446	HAEpiC	amniotic membrane:	n/a
8	chr12:121735363-121735413	AG09309	skin:	n/a
9	chr12:121735363-121735413	Hela-S3	cervix:	n/a
10	chr12:121735363-121735413	HCF	heart:	n/a
11	chr12:121735363-121735413	SAEC	small airway:	n/a
12	chr12:121735363-121735413	MCF10A-Er-Src	breast:	n/a
13	chr12:121735396-121735446	ECC-1	luminal epithelium:	n/a
14	chr12:121735396-121735446	U87	brain:	n/a
15	chr12:121735396-121735446	GM06990	blood:	n/a
16	chr12:121735396-121735446	HEK293	kidney:	embryo
17	chr12:121735363-121735413	NH-A	brain:	n/a
18	chr12:121735363-121735413	HMEC	breast:	n/a
19	chr12:121735363-121735413	HUVEC	blood vessel:	n/a
20	chr12:121735396-121735446	HPAEpiC	pulmonary alveolar:	n/a
21	chr12:121735363-121735413	ovcar-3	ovarian:	n/a
22	chr12:121735396-121735446	Hela-S3	cervix:	n/a
23	chr12:121735363-121735413	HEK293	kidney:	embryo
24	chr12:121735396-121735446	ProgFib	skin:	n/a
25	chr12:121735363-121735413	PrEC	prostate:	n/a
26	chr12:121735396-121735446	NH-A	brain:	n/a
27	chr12:121735396-121735446	SK-N-MC	brain:	n/a
28	chr12:121735363-121735413	GM19239	blood:	n/a
29	chr12:121735363-121735413	GM12891	blood:	n/a
30	chr12:121735363-121735413	GM12892	blood:	n/a
31	chr12:121735363-121735413	SKMC	muscle:	n/a
32	chr12:121735396-121735446	AG10803	skin:	n/a
33	chr12:121735363-121735413	HPAEpiC	pulmonary alveolar:	n/a
34	chr12:121735396-121735446	Hepatocyte	liver:	n/a
35	chr12:121735363-121735413	T-47D	breast:	n/a
36	chr12:121735363-121735413	HRE	kidney:	n/a
37	chr12:121735396-121735446	AG04450	lung:	fetal
38	chr12:121735396-121735446	HCF	heart:	n/a
39	chr12:121735396-121735446	MCF-7	breast:	n/a
40	chr12:121735363-121735413	PFSK-1	brain:	n/a
41	chr12:121735396-121735446	NHBE	bronchial:	n/a
42	chr12:121735363-121735413	ECC-1	luminal epithelium:	n/a
43	chr12:121735363-121735413	NHDF-neo	bronchial:	n/a
44	chr12:121735396-121735446	SAEC	small airway:	n/a
45	chr12:121735396-121735446	BE2_C	brain:	n/a
46	chr12:121735363-121735413	K562	blood:	n/a
47	chr12:121735363-121735413	BE2_C	brain:	n/a
48	chr12:121735396-121735446	CMK	blood:	n/a
49	chr12:121735396-121735446	K562	blood:	n/a
50	chr12:121735396-121735446	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:121735315..121736924-chr12:121836977..121839840,2	K562	blood:
2	chr12:121734916..121736998-chr12:121837533..121840449,2	MCF-7	breast:
3	chr12:121733288..121735656-chr12:121790091..121791825,2	K562	blood:
4	chr12:121647374..121649635-chr12:121733730..121735639,2	K562	blood:
5	chr12:121733327..121735828-chr12:121789056..121791412,2	MCF-7	breast:
6	chr12:121734311..121735951-chr12:121758693..121760511,2	MCF-7	breast:
7	chr12:121733110..121736069-chr3:81809721..81812341,2	MCF-7	breast:
8	chr12:121734086..121735586-chr12:121779750..121781285,2	MCF-7	breast:
9	chr12:121710529..121712410-chr12:121734023..121735954,2	MCF-7	breast:

Variant related genes	Relation type
CAMKK2	TF binding region
CAMKK2	CpG island
ENSG00000110931	Chromatin interaction
ENSG00000089053	Chromatin interaction
ENSG00000170633	Chromatin interaction
ENSG00000135124	Chromatin interaction
ENSG00000114480	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12581628	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59373781	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7300385	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1048801	chr12:121695522-121761800	Flanking Active TSS Strong transcription Weak transcription Enhancers 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 miRNA target site	9 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	chr12:121732400-121735800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr12:121732600-121735600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:121733200-121735600	Active TSS	NHDF-Ad	bronchial
4	chr12:121733200-121735800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr12:121733200-121735800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr12:121733200-121735800	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr12:121733200-121735800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:121733200-121735800	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr12:121733200-121736000	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr12:121733200-121736000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr12:121733200-121736000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr12:121733400-121735600	Active TSS	Aorta	Aorta
13	chr12:121733400-121736000	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr12:121733400-121736000	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr12:121733600-121735600	Active TSS	Gastric	stomach
16	chr12:121733600-121735600	Active TSS	Ovary	ovary
17	chr12:121733600-121735800	Active TSS	Brain Cingulate Gyrus	brain
18	chr12:121733600-121736000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:121733800-121735600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr12:121733800-121735600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr12:121733800-121735600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr12:121733800-121735600	Active TSS	Left Ventricle	heart
23	chr12:121733800-121735600	Active TSS	Lung	lung
24	chr12:121733800-121735800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:121733800-121735800	Active TSS	Brain Anterior Caudate	brain
26	chr12:121733800-121736000	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr12:121733800-121736000	Active TSS	Colon Smooth Muscle	Colon
28	chr12:121734000-121735600	Active TSS	Brain Angular Gyrus	brain
29	chr12:121734000-121735800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr12:121734000-121735800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:121734000-121735800	Active TSS	Right Atrium	heart
32	chr12:121734000-121735800	Active TSS	Right Ventricle	heart
33	chr12:121734000-121736000	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr12:121734000-121736000	Active TSS	HepG2	liver
35	chr12:121734200-121735800	Active TSS	Thymus	Thymus
36	chr12:121734800-121735600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
37	chr12:121735000-121735600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:121735000-121735600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:121735000-121735600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:121735000-121735600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr12:121735000-121735600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr12:121735000-121735600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr12:121735000-121735600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:121735000-121735600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
45	chr12:121735000-121735600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr12:121735000-121735600	Flanking Active TSS	Fetal Brain Female	brain
47	chr12:121735000-121735600	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr12:121735000-121735600	Flanking Active TSS	Dnd41	blood
49	chr12:121735000-121735600	Flanking Active TSS	HMEC	breast
50	chr12:121735000-121735600	Flanking Active TSS	NH-A	brain

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