Variant report

Variant	rs12031658
Chromosome Location	chr1:113497629-113497630
allele	A/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	MYC	chr1:113497412-113500450	K562	blood:	n/a	chr1:113497413-113497426 chr1:113497413-113497426 chr1:113497417-113497424 chr1:113497414-113497425 chr1:113500276-113500286 chr1:113497414-113497425 chr1:113497415-113497424 chr1:113497413-113497426 chr1:113497415-113497425 chr1:113497416-113497425 chr1:113497557-113497566 chr1:113497414-113497425 chr1:113498500-113498509
2	IRF1	chr1:113496710-113499275	K562	blood:	n/a	chr1:113498874-113498888
3	MXI1	chr1:113497254-113500450	Hela-S3	cervix:	n/a	n/a
4	TEAD4	chr1:113497330-113499433	K562	blood:	n/a	n/a
5	MAZ	chr1:113497266-113499667	IMR90	lung:	n/a	chr1:113497413-113497426 chr1:113497413-113497426 chr1:113497417-113497424 chr1:113497414-113497425 chr1:113497414-113497425 chr1:113497415-113497424 chr1:113497413-113497426 chr1:113497415-113497425 chr1:113497416-113497425 chr1:113497557-113497566 chr1:113497414-113497425 chr1:113497411-113497426 chr1:113498500-113498509
6	KAP1	chr1:113497451-113498606	K562	blood:	n/a	n/a
7	POLR2A	chr1:113497625-113500648	U87	brain:	n/a	n/a
8	TBL1XR1	chr1:113497455-113499253	K562	blood:	n/a	n/a
9	CEBPB	chr1:113497246-113497676	K562	blood:	n/a	n/a
10	MXI1	chr1:113496452-113500651	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr1:113496614-113501021	MCF10A-Er-Src	breast:	n/a	n/a
12	CUX1	chr1:113497394-113498286	K562	blood:	n/a	n/a
13	POLR2A	chr1:113497625-113499497	U87	brain:	n/a	n/a
14	EP300	chr1:113497446-113499199	K562	blood:	n/a	chr1:113498899-113498908 chr1:113498424-113498433
15	MXI1	chr1:113497380-113500630	GM12878	blood:	n/a	n/a
16	GATA1	chr1:113497291-113499271	PBDE	blood:	n/a	chr1:113497932-113497941 chr1:113497711-113497720
17	TAL1	chr1:113496385-113499187	K562	blood:	n/a	n/a
18	SIN3A	chr1:113496700-113500418	H1-hESC	embryonic stem cell:	n/a	chr1:113498030-113498043
19	CHD1	chr1:113497033-113498304	H1-hESC	embryonic stem cell:	n/a	n/a
20	MXI1	chr1:113497163-113500524	IMR90	lung:	n/a	n/a
21	TBP	chr1:113497451-113499655	K562	blood:	n/a	n/a
22	MXI1	chr1:113496819-113499323	K562	blood:	n/a	n/a
23	JUN	chr1:113497576-113498055	K562	blood:	n/a	n/a
24	NR2F2	chr1:113497528-113500574	K562	blood:	n/a	n/a
25	TBL1XR1	chr1:113497474-113499238	K562	blood:	n/a	n/a
26	SIN3AK20	chr1:113497592-113499369	K562	blood:	n/a	n/a
27	TEAD4	chr1:113497583-113499332	K562	blood:	n/a	n/a
28	POLR2A	chr1:113497201-113499289	K562	blood:	n/a	n/a
29	UBTF	chr1:113497544-113499202	K562	blood:	n/a	n/a
30	NR2F2	chr1:113497599-113499480	K562	blood:	n/a	n/a
31	UBTF	chr1:113497302-113499440	K562	blood:	n/a	n/a
32	JUND	chr1:113497522-113499367	K562	blood:	n/a	n/a
33	POLR2A	chr1:113497590-113497655	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:113470982..113473508-chr1:113495282..113498149,2	K562	blood:
2	chr1:113459369..113469193-chr1:113493855..113500263,12	K562	blood:
3	chr1:113255626..113260544-chr1:113496476..113500122,4	K562	blood:
4	chr1:113476800..113479671-chr1:113497569..113500244,3	MCF-7	breast:
5	chr1:113495044..113497639-chr1:113562401..113565157,2	K562	blood:
6	chr1:113497285..113498867-chr1:114354926..114357337,2	K562	blood:
7	chr1:113476476..113482692-chr1:113494893..113501777,18	K562	blood:
8	chr1:113496138..113497721-chr1:113563292..113564960,2	MCF-7	breast:
9	chr1:113417890..113419473-chr1:113495009..113497982,2	K562	blood:
10	chr1:113240296..113243095-chr1:113496225..113498995,2	K562	blood:
11	chr1:113495059..113500488-chr1:113613593..113618010,11	K562	blood:
12	chr1:113493791..113500715-chr1:113613796..113618010,15	K562	blood:
13	chr1:113495708..113498262-chr1:114506476..114508244,2	K562	blood:
14	chr1:113495642..113498034-chr1:114469610..114473117,3	K562	blood:
15	chr1:113496225..113498697-chr7:153107803..153110252,2	K562	blood:

Variant related genes	Relation type
SLC16A1-AS1	TF binding region
ENSG00000155363	Chromatin interaction
ENSG00000238198	Chromatin interaction
ENSG00000229020	Chromatin interaction
ENSG00000235527	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000231128	Chromatin interaction
ENSG00000198799	Chromatin interaction
ENSG00000261595	Chromatin interaction
ENSG00000155367	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000163349	Chromatin interaction
ENSG00000234722	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11102588	1.00[CHB][hapmap]
rs11102592	1.00[CHB][hapmap]
rs12026981	1.00[CHB][hapmap]
rs12128658	1.00[CHB][hapmap]
rs12136941	1.00[CHB][hapmap]
rs1216767	1.00[CHB][hapmap]
rs1216769	1.00[CHB][hapmap]
rs1216798	1.00[CHB][hapmap]
rs1216807	1.00[CHB][hapmap]
rs1216808	1.00[CHB][hapmap]
rs1216813	1.00[CHB][hapmap]
rs1618794	1.00[CHB][hapmap]
rs1728229	1.00[CHB][hapmap]
rs1766864	1.00[CHB][hapmap]
rs1766865	1.00[CHB][hapmap]
rs1778017	1.00[CHB][hapmap]
rs1778019	1.00[CHB][hapmap]
rs4839291	1.00[CHB][hapmap]
rs4839292	1.00[CHB][hapmap]
rs6670587	1.00[CHB][hapmap]
rs6695183	1.00[CHB][hapmap]
rs7531847	1.00[CHB][hapmap]
rs946215	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS 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	59 gene(s)	inside rSNPs	diseases
14	esv1827123	chr1:113496841-113531848	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113492600-113498000	Weak transcription	Pancreas	Pancrea
2	chr1:113493400-113497800	Weak transcription	Esophagus	oesophagus
3	chr1:113494000-113497800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:113494000-113497800	Weak transcription	Small Intestine	intestine
5	chr1:113494200-113497800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
6	chr1:113495000-113497800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:113495200-113501400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr1:113495800-113500200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:113495800-113500600	Active TSS	H9 Cell Line	embryonic stem cell
10	chr1:113495800-113500600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:113495800-113500800	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr1:113495800-113501400	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:113496000-113497800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:113496000-113497800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr1:113496000-113497800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:113496000-113501000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr1:113496200-113497800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:113496200-113497800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:113496200-113497800	Flanking Active TSS	Brain Cingulate Gyrus	brain
20	chr1:113496200-113497800	Flanking Active TSS	Dnd41	blood
21	chr1:113496200-113498000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:113496200-113500400	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:113496200-113501800	Active TSS	Right Ventricle	heart
24	chr1:113496400-113498000	Active TSS	Right Atrium	heart
25	chr1:113496400-113500000	Active TSS	Psoas Muscle	Psoas
26	chr1:113496400-113500600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:113496400-113500600	Active TSS	Aorta	Aorta
28	chr1:113496400-113501400	Active TSS	GM12878-XiMat	blood
29	chr1:113496600-113497800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr1:113496600-113498000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr1:113496600-113500400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:113496600-113500800	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr1:113496600-113501400	Active TSS	Rectal Smooth Muscle	rectum
34	chr1:113496600-113501400	Active TSS	HepG2	liver
35	chr1:113496600-113501600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:113496800-113497800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:113496800-113497800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:113496800-113497800	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr1:113496800-113497800	Flanking Active TSS	Fetal Brain Male	brain
40	chr1:113496800-113498200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr1:113496800-113498400	Active TSS	Brain Germinal Matrix	brain
42	chr1:113496800-113498800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:113496800-113499600	Active TSS	Fetal Thymus	thymus
44	chr1:113496800-113500000	Active TSS	Fetal Brain Female	brain
45	chr1:113496800-113500200	Active TSS	Brain Inferior Temporal Lobe	brain
46	chr1:113496800-113500200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:113496800-113500200	Active TSS	Duodenum Smooth Muscle	Duodenum
48	chr1:113496800-113500200	Active TSS	HSMM	muscle
49	chr1:113496800-113500400	Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr1:113496800-113500400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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