Variant report

Variant	rs191762639
Chromosome Location	chr1:161052896-161052897
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	ZNF263	chr1:161052826-161053581	HEK293-T-REx	kidney:	n/a	chr1:161053387-161053396 chr1:161053363-161053372 chr1:161053175-161053184
2	GATA3	chr1:161052781-161053846	MCF-7	breast:	n/a	n/a
3	JUN	chr1:161052875-161053607	Hela-S3	cervix:	n/a	chr1:161053426-161053436 chr1:161053217-161053230 chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053256-161053269 chr1:161053427-161053435 chr1:161053426-161053436 chr1:161053221-161053230
4	CEBPB	chr1:161052323-161054117	HCT-116	colon:	n/a	n/a
5	CEBPB	chr1:161052692-161053980	HCT-116	colon:	n/a	n/a
6	MAX	chr1:161052714-161054419	MCF-7	breast:	n/a	n/a
7	JUN	chr1:161052522-161053776	K562	blood:	n/a	chr1:161053426-161053436 chr1:161053217-161053230 chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053256-161053269 chr1:161053427-161053435 chr1:161053426-161053436 chr1:161053221-161053230
8	GTF2F1	chr1:161052892-161052907	K562	blood:	n/a	n/a
9	JUND	chr1:161052788-161053606	Hela-S3	cervix:	n/a	chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053426-161053436 chr1:161053427-161053435 chr1:161053426-161053436 chr1:161053221-161053230
10	SIN3AK20	chr1:161052752-161053993	MCF-7	breast:	n/a	n/a
11	MAZ	chr1:161052825-161054697	IMR90	lung:	n/a	n/a
12	TCF12	chr1:161052896-161053792	A549	lung:	n/a	chr1:161053327-161053336
13	SP1	chr1:161052119-161054309	HCT-116	colon:	n/a	chr1:161053384-161053398 chr1:161052189-161052203
14	CTCF	chr1:161052860-161053010	HPAF	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161051876..161054238-chr1:161125249..161127981,2	K562	blood:
2	chr1:161051697..161056385-chr1:161085679..161090534,7	K562	blood:
3	chr1:161052309..161054886-chr1:161086826..161089196,2	MCF-7	breast:
4	chr1:161051125..161053415-chr1:161074658..161077254,2	MCF-7	breast:
5	chr1:161014972..161017157-chr1:161051557..161054618,4	MCF-7	breast:
6	chr1:161012288..161019472-chr1:161047717..161055328,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228917	TF binding region
ENSG00000158793	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000143256	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv3221	chr1:161008175-161052979	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription 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 miRNA target site	37 gene(s)	inside rSNPs	diseases
3	esv988172	chr1:161051918-161055508	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161039600-161066800	Weak transcription	Right Atrium	heart
2	chr1:161039800-161053000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:161045000-161053200	Weak transcription	Duodenum Mucosa	Duodenum
4	chr1:161047400-161053400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:161047600-161053000	Weak transcription	HepG2	liver
6	chr1:161049000-161055000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr1:161049200-161055600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:161049400-161053600	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:161049400-161056400	Enhancers	HMEC	breast
10	chr1:161049400-161056600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:161049600-161054600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr1:161049800-161054600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:161050000-161057800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:161050200-161055800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:161050400-161053600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:161050600-161053600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:161050800-161053000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr1:161051000-161054800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr1:161051000-161055800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:161051200-161053800	Enhancers	Stomach Mucosa	stomach
21	chr1:161051200-161055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:161051400-161053000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:161052200-161053400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:161052200-161054400	Enhancers	Gastric	stomach
25	chr1:161052200-161058400	Enhancers	Pancreas	Pancrea
26	chr1:161052400-161054200	Enhancers	Lung	lung
27	chr1:161052400-161055400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:161052400-161055400	Enhancers	Fetal Intestine Small	intestine
29	chr1:161052400-161055400	Enhancers	A549	lung
30	chr1:161052400-161055400	Enhancers	NHDF-Ad	bronchial
31	chr1:161052400-161057000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:161052600-161053000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:161052600-161054400	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr1:161052600-161055400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:161052600-161055400	Enhancers	HSMMtube	muscle
36	chr1:161052600-161055400	Enhancers	Osteobl	bone
37	chr1:161052600-161055800	Enhancers	HSMM	muscle
38	chr1:161052600-161056200	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr1:161052600-161056400	Enhancers	K562	blood
40	chr1:161052600-161056600	Enhancers	Fetal Intestine Large	intestine
41	chr1:161052800-161053000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:161052800-161053200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:161052800-161053200	Flanking Active TSS	Esophagus	oesophagus
44	chr1:161052800-161053200	Flanking Active TSS	Placenta	Placenta
45	chr1:161052800-161053200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr1:161052800-161053400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:161052800-161053600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:161052800-161053800	Enhancers	H1 Cell Line	embryonic stem cell
49	chr1:161052800-161053800	Flanking Active TSS	Hela-S3	cervix
50	chr1:161052800-161053800	Flanking Active TSS	NHEK	skin

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