Variant report

Variant	rs137992620
Chromosome Location	chr1:151809778-151809779
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	TCF7L2	chr1:151809018-151809922	Hela-S3	cervix:	n/a	n/a
2	NR2F2	chr1:151808672-151810171	MCF-7	breast:	n/a	n/a
3	GATA3	chr1:151808902-151809829	T-47D	breast:	n/a	chr1:151809442-151809452
4	NFIC	chr1:151808690-151809959	ECC-1	luminal epithelium:	n/a	n/a
5	SMC3	chr1:151808827-151809864	Hela-S3	cervix:	n/a	chr1:151809488-151809498 chr1:151809091-151809105
6	USF2	chr1:151809428-151809841	Hela-S3	cervix:	n/a	n/a
7	RCOR1	chr1:151808943-151809880	Hela-S3	cervix:	n/a	n/a
8	MAZ	chr1:151808963-151809857	Hela-S3	cervix:	n/a	n/a
9	BRCA1	chr1:151808884-151809800	Hela-S3	cervix:	n/a	n/a
10	RAD21	chr1:151808714-151809824	MCF-7	breast:	n/a	chr1:151809360-151809373 chr1:151809096-151809105 chr1:151808819-151808831 chr1:151809087-151809106 chr1:151809090-151809104 chr1:151809598-151809612
11	RAD21	chr1:151808822-151809829	Hela-S3	cervix:	n/a	chr1:151809360-151809373 chr1:151809096-151809105 chr1:151809087-151809106 chr1:151809090-151809104 chr1:151809598-151809612
12	CTCF	chr1:151808306-151809793	MCF-7	breast:	n/a	chr1:151808816-151808829 chr1:151809084-151809105 chr1:151809091-151809104 chr1:151809095-151809104 chr1:151809089-151809107 chr1:151809598-151809611
13	FOS	chr1:151809722-151810168	HUVEC	blood vessel:	n/a	chr1:151809973-151809983 chr1:151809840-151809851 chr1:151809973-151809983 chr1:151809837-151809849 chr1:151809973-151809983 chr1:151809974-151809982 chr1:151809973-151809983 chr1:151809837-151809848 chr1:151809839-151809847
14	CHD2	chr1:151809015-151809788	Hela-S3	cervix:	n/a	chr1:151809583-151809593 chr1:151809668-151809678
15	MAX	chr1:151808621-151810142	MCF-7	breast:	n/a	n/a
16	MYC	chr1:151808907-151809880	Hela-S3	cervix:	n/a	n/a
17	GABPA	chr1:151808730-151810259	MCF-7	breast:	n/a	n/a
18	MAX	chr1:151808826-151809955	MCF-7	breast:	n/a	n/a
19	CEBPB	chr1:151808933-151809820	Hela-S3	cervix:	n/a	n/a
20	NFIC	chr1:151808919-151809813	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:151510584..151515702-chr1:151808389..151812312,7	MCF-7	breast:
2	chr1:151735784..151737318-chr1:151808411..151810675,2	MCF-7	breast:
3	chr1:151483121..151485992-chr1:151808020..151810121,3	MCF-7	breast:
4	chr1:151509575..151514119-chr1:151809649..151812293,5	MCF-7	breast:
5	chr1:151804539..151806807-chr1:151808292..151812161,4	K562	blood:
6	chr1:19410890..19413871-chr1:151808457..151811077,2	MCF-7	breast:
7	chr1:151773064..151773919-chr1:151809447..151809983,2	MCF-7	breast:
8	chr1:151808928..151809951-chr1:151853655..151854418,3	MCF-7	breast:
9	chr1:151808355..151810594-chr1:151852540..151855427,2	MCF-7	breast:
10	chr1:151734307..151737224-chr1:151809345..151813879,7	MCF-7	breast:
11	chr1:151809106..151809860-chr3:64016088..64016677,2	MCF-7	breast:
12	chr1:151717253..151722089-chr1:151808382..151812448,4	MCF-7	breast:
13	chr1:151764210..151765820-chr1:151809530..151811612,2	MCF-7	breast:
14	chr1:151808068..151810311-chr1:151964159..151966593,4	MCF-7	breast:
15	chr1:151430044..151432386-chr1:151809146..151811411,2	MCF-7	breast:
16	chr1:151795525..151798477-chr1:151809091..151811611,2	MCF-7	breast:
17	chr1:151809368..151811108-chr1:151856031..151858705,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000234614	TF binding region
ENSG00000197747	Chromatin interaction
ENSG00000206980	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143450	Chromatin interaction
ENSG00000143436	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516369	chr1:151780177-151820324	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	esv1804657	chr1:151784152-151825756	Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv1008033	chr1:151785029-151843154	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	esv3360539	chr1:151809753-151812301	Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151802400-151810400	Weak transcription	Right Atrium	heart
2	chr1:151802800-151811000	Enhancers	Placenta	Placenta
3	chr1:151804400-151810200	Weak transcription	Gastric	stomach
4	chr1:151804400-151810600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr1:151804600-151812000	Enhancers	Pancreas	Pancrea
6	chr1:151805000-151810200	Weak transcription	Right Ventricle	heart
7	chr1:151805200-151810400	Weak transcription	Lung	lung
8	chr1:151805200-151810600	Enhancers	Dnd41	blood
9	chr1:151805400-151810400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr1:151805600-151809800	Enhancers	Duodenum Mucosa	Duodenum
11	chr1:151805600-151811200	Weak transcription	Brain Angular Gyrus	brain
12	chr1:151806000-151810400	Weak transcription	Esophagus	oesophagus
13	chr1:151806200-151810400	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr1:151806200-151811000	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:151806400-151811800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:151806800-151810000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr1:151807000-151810800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:151807200-151810600	Enhancers	Liver	Liver
19	chr1:151808200-151810400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr1:151808400-151810000	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr1:151808400-151810400	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr1:151808400-151810400	Bivalent Enhancer	Monocytes-CD14+_RO01746	blood
23	chr1:151808400-151810800	Enhancers	HMEC	breast
24	chr1:151808600-151809800	Enhancers	Primary hematopoietic stem cells	blood
25	chr1:151808600-151810400	Enhancers	NHEK	skin
26	chr1:151808800-151809800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr1:151808800-151810000	Enhancers	A549	lung
28	chr1:151808800-151810200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr1:151808800-151810200	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr1:151808800-151810400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:151808800-151810400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:151808800-151810800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:151808800-151810800	Enhancers	Rectal Mucosa Donor 31	rectum
34	chr1:151808800-151811200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:151809000-151809800	Enhancers	Primary T cells from cord blood	blood
36	chr1:151809000-151810000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:151809000-151810200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:151809000-151810200	Flanking Active TSS	Hela-S3	cervix
39	chr1:151809000-151812000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
40	chr1:151809200-151809800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:151809200-151810200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr1:151809200-151810200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr1:151809200-151810200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr1:151809200-151810200	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
45	chr1:151809200-151810400	Bivalent Enhancer	Fetal Lung	lung
46	chr1:151809200-151810800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr1:151809200-151811200	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr1:151809400-151809800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:151809400-151809800	Enhancers	Stomach Mucosa	stomach
50	chr1:151809400-151810000	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell

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