Variant report

Variant	rs12728036
Chromosome Location	chr1:246796489-246796490
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	CEBPB	chr1:246795940-246796613	IMR90	lung:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
2	PBX3	chr1:246795797-246796527	SK-N-SH	brain:	n/a	n/a
3	CEBPB	chr1:246796228-246796590	MCF-7	breast:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
4	JUND	chr1:246795818-246796514	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr1:246795950-246796535	SK-N-SH	brain:	n/a	n/a
6	JUND	chr1:246795762-246796631	SK-N-SH	brain:	n/a	n/a
7	PBX3	chr1:246795920-246796554	SK-N-SH	brain:	n/a	n/a
8	FOSL2	chr1:246795825-246796568	SK-N-SH	brain:	n/a	n/a
9	GATA3	chr1:246795728-246796683	SK-N-SH	brain:	n/a	chr1:246795911-246795922 chr1:246796268-246796279
10	TCF12	chr1:246795684-246796723	SK-N-SH	brain:	n/a	chr1:246796097-246796106
11	EP300	chr1:246795790-246796590	SK-N-SH	brain:	n/a	chr1:246796413-246796427 chr1:246796373-246796387 chr1:246795905-246795919
12	CEBPB	chr1:246796270-246796547	A549	lung:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
13	TEAD4	chr1:246795963-246796594	SK-N-SH	brain:	n/a	n/a
14	TEAD4	chr1:246795849-246796628	SK-N-SH	brain:	n/a	n/a
15	CEBPB	chr1:246796267-246796556	K562	blood:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
16	MAX	chr1:246795913-246796540	SK-N-SH	brain:	n/a	chr1:246796053-246796062 chr1:246796054-246796063 chr1:246796052-246796065 chr1:246796052-246796065 chr1:246796054-246796063 chr1:246796052-246796065
17	CEBPB	chr1:246796265-246796569	HepG2	liver:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423
18	MAFK	chr1:246795757-246796490	IMR90	lung:	n/a	chr1:246795924-246795935 chr1:246795920-246795935 chr1:246796333-246796343 chr1:246795925-246795936 chr1:246795925-246795936 chr1:246795885-246795896 chr1:246795920-246795936
19	TCF12	chr1:246795898-246796691	SK-N-SH	brain:	n/a	chr1:246796097-246796106
20	MXI1	chr1:246795786-246796695	IMR90	lung:	n/a	n/a
21	GATA3	chr1:246795739-246796511	SK-N-SH	brain:	n/a	chr1:246795911-246795922 chr1:246796268-246796279
22	MAX	chr1:246795908-246796597	SK-N-SH	brain:	n/a	chr1:246796053-246796062 chr1:246796054-246796063 chr1:246796052-246796065 chr1:246796052-246796065 chr1:246796054-246796063 chr1:246796052-246796065
23	CEBPB	chr1:246796251-246796522	MCF-7	breast:	n/a	chr1:246796412-246796425 chr1:246796414-246796425 chr1:246796412-246796425 chr1:246796412-246796423

Variant related genes	Relation type
ENSG00000228955	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11586702	1.00[ASN][1000 genomes]
rs12117791	1.00[ASN][1000 genomes]
rs12118617	0.82[AMR][1000 genomes]
rs12119414	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12121655	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12122261	1.00[ASN][1000 genomes]
rs12126135	1.00[ASN][1000 genomes]
rs12130507	1.00[ASN][1000 genomes]
rs12131302	1.00[AMR][1000 genomes]
rs12132823	0.82[AMR][1000 genomes]
rs12133570	0.82[AMR][1000 genomes]
rs12134535	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12728813	1.00[ASN][1000 genomes]
rs12750060	1.00[ASN][1000 genomes]
rs34385126	1.00[ASN][1000 genomes]
rs34471048	1.00[ASN][1000 genomes]
rs34695209	1.00[ASN][1000 genomes]
rs35795797	1.00[ASN][1000 genomes]
rs61852393	0.91[AMR][1000 genomes]
rs61852394	1.00[AMR][1000 genomes]
rs61852409	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61852424	1.00[ASN][1000 genomes]
rs61852425	1.00[ASN][1000 genomes]
rs6669532	1.00[ASN][1000 genomes]
rs6687128	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6701305	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6704469	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9426208	1.00[ASN][1000 genomes]
rs9426254	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004119	chr1:245957145-246813150	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv535389	chr1:245957145-246813150	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1014529	chr1:245957145-246817877	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv868852	chr1:245969229-246811220	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv948348	chr1:246090818-246853200	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv1013800	chr1:246472691-246840960	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv535409	chr1:246472691-246840960	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	esv2762191	chr1:246546436-246815064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
10	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv1010453	chr1:246645797-246815052	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv998579	chr1:246666041-246817877	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv1010316	chr1:246686301-246840960	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv535414	chr1:246686301-246840960	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
15	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
16	nsv528615	chr1:246708467-246843315	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv1014280	chr1:246709243-246823255	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
18	nsv1013264	chr1:246723012-246807400	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
19	nsv535415	chr1:246723012-246807400	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv1005214	chr1:246730885-246841107	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
21	esv3346702	chr1:246769596-246798732	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
22	esv3368182	chr1:246770638-246799861	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
23	nsv1002595	chr1:246774036-246846548	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv869936	chr1:246778181-246811161	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246739000-246806200	Weak transcription	Aorta	Aorta
2	chr1:246755400-246832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:246773200-246799000	Weak transcription	Fetal Lung	lung
4	chr1:246774600-246800400	Weak transcription	Pancreas	Pancrea
5	chr1:246777000-246799800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr1:246777000-246802000	Weak transcription	NHEK	skin
7	chr1:246779600-246797200	Weak transcription	Colonic Mucosa	Colon
8	chr1:246780800-246798000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr1:246780800-246806400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:246780800-246813400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr1:246781000-246800000	Weak transcription	HMEC	breast
12	chr1:246781000-246803000	Weak transcription	Brain Anterior Caudate	brain
13	chr1:246781200-246797400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr1:246781200-246798800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:246781400-246800400	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:246781800-246797000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:246782000-246800400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:246782200-246810200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:246782400-246810800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr1:246782800-246810600	Weak transcription	Fetal Brain Male	brain
21	chr1:246784200-246810600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:246784200-246833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:246784400-246799800	Weak transcription	Spleen	Spleen
24	chr1:246785000-246797400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:246785600-246800600	Weak transcription	Gastric	stomach
26	chr1:246785800-246798400	Weak transcription	Brain Germinal Matrix	brain
27	chr1:246785800-246801600	Weak transcription	Psoas Muscle	Psoas
28	chr1:246786000-246797200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:246786000-246804800	Weak transcription	Fetal Heart	heart
30	chr1:246788000-246798000	Weak transcription	Fetal Intestine Small	intestine
31	chr1:246788000-246799200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:246789200-246839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr1:246790800-246797200	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:246790800-246800400	Weak transcription	Right Ventricle	heart
35	chr1:246791000-246797400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:246791000-246804800	Weak transcription	Small Intestine	intestine
37	chr1:246791000-246806200	Weak transcription	Brain Angular Gyrus	brain
38	chr1:246791200-246810400	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:246791600-246798000	Weak transcription	Fetal Stomach	stomach
40	chr1:246791600-246800400	Weak transcription	Left Ventricle	heart
41	chr1:246792200-246801600	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr1:246792800-246802000	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr1:246793200-246796600	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr1:246793400-246800000	Weak transcription	Ovary	ovary
45	chr1:246793600-246797000	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:246794400-246796800	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:246794600-246796600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:246794800-246797400	Weak transcription	Primary neutrophils fromperipheralblood	blood
49	chr1:246794800-246797600	Weak transcription	GM12878-XiMat	blood
50	chr1:246794800-246798200	Strong transcription	K562	blood

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