Variant report

Variant	rs17181842
Chromosome Location	chr1:161015016-161015017
allele	C/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	SIN3AK20	chr1:161014774-161015191	PFSK-1	brain:	n/a	n/a
2	TAF1	chr1:161014931-161016367	ECC-1	luminal epithelium:	n/a	n/a
3	UBTF	chr1:161014808-161016009	K562	blood:	n/a	n/a
4	POLR2A	chr1:161014496-161017041	IMR90	lung:	n/a	n/a
5	IRF1	chr1:161014360-161016259	K562	blood:	n/a	chr1:161014773-161014787 chr1:161014776-161014790 chr1:161014770-161014784 chr1:161014779-161014793 chr1:161014777-161014790 chr1:161014775-161014789 chr1:161014779-161014789 chr1:161014773-161014794 chr1:161015569-161015582 chr1:161014771-161014791 chr1:161014765-161014785 chr1:161015780-161015794 chr1:161014777-161014790 chr1:161015568-161015588 chr1:161014769-161014783 chr1:161014772-161014781 chr1:161014774-161014785 chr1:161014777-161014790 chr1:161014777-161014791 chr1:161014779-161014790 chr1:161014778-161014795 chr1:161014780-161014791 chr1:161014773-161014783
6	POLR2A	chr1:161014571-161016485	HUVEC	blood vessel:	n/a	n/a
7	TAF1	chr1:161014664-161016386	H1-neurons	neurons:	n/a	n/a
8	NFYB	chr1:161014818-161015177	K562	blood:	n/a	n/a
9	NFATC1	chr1:161014571-161015225	GM12878	blood:	n/a	chr1:161014721-161014734
10	POLR2A	chr1:161014678-161018455	GM18505	blood:	n/a	n/a
11	POLR2A	chr1:161014748-161016402	HUVEC	blood vessel:	n/a	n/a
12	GABPA	chr1:161014925-161015201	Hela-S3	cervix:	n/a	n/a
13	YY1	chr1:161014863-161016692	SK-N-SH	brain:	n/a	chr1:161016066-161016085 chr1:161015745-161015764 chr1:161015744-161015764 chr1:161015405-161015419 chr1:161015312-161015323 chr1:161015750-161015758 chr1:161016066-161016083 chr1:161016043-161016051 chr1:161015409-161015420 chr1:161015747-161015769 chr1:161016068-161016090 chr1:161015747-161015757 chr1:161016071-161016079 chr1:161016040-161016062
14	IRF4	chr1:161014471-161015087	GM12878	blood:	n/a	chr1:161014773-161014794 chr1:161014777-161014791
15	POLR2A	chr1:161014807-161016252	MCF-7	breast:	n/a	n/a
16	TAF1	chr1:161014716-161015200	K562	blood:	n/a	n/a
17	POLR2A	chr1:161014712-161015480	K562	blood:	n/a	n/a
18	TAF1	chr1:161014865-161015209	Hela-S3	cervix:	n/a	n/a
19	IKZF1	chr1:161014501-161015081	GM12878	blood:	n/a	n/a
20	CHD2	chr1:161014791-161016354	Hela-S3	cervix:	n/a	n/a
21	RFX5	chr1:161014732-161016550	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr1:161014735-161016586	GM12878	blood:	n/a	n/a
23	CHD2	chr1:161014386-161015097	GM12878	blood:	n/a	n/a
24	NRF1	chr1:161014437-161016739	SK-N-SH	brain:	n/a	chr1:161015725-161015736 chr1:161015334-161015343
25	RCOR1	chr1:161014715-161016279	K562	blood:	n/a	n/a
26	CTCF	chr1:161015000-161015150	HPF	lung:	n/a	n/a
27	YY1	chr1:161014954-161016468	A549	lung:	n/a	chr1:161016066-161016085 chr1:161015745-161015764 chr1:161015744-161015764 chr1:161015405-161015419 chr1:161015312-161015323 chr1:161015750-161015758 chr1:161016066-161016083 chr1:161016043-161016051 chr1:161015409-161015420 chr1:161015747-161015769 chr1:161016068-161016090 chr1:161015747-161015757 chr1:161016071-161016079 chr1:161016040-161016062
28	TCF12	chr1:161014925-161016199	ECC-1	luminal epithelium:	n/a	chr1:161015343-161015353
29	POLR2A	chr1:161014845-161015028	H1-hESC	embryonic stem cell:	n/a	n/a
30	SIN3AK20	chr1:161014635-161015835	K562	blood:	n/a	n/a
31	E2F6	chr1:161014694-161016384	A549	lung:	n/a	chr1:161015031-161015040 chr1:161015406-161015416
32	E2F6	chr1:161014778-161015018	K562	blood:	n/a	n/a
33	GABPA	chr1:161014869-161015284	A549	lung:	n/a	n/a
34	POLR2A	chr1:161014603-161018080	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:161014900-161015050	AG04449	skin:	n/a	n/a
36	POLR2A	chr1:161014892-161015214	Gliobla	brain:	n/a	n/a
37	TAF1	chr1:161014895-161016159	HepG2	liver:	n/a	n/a
38	MAX	chr1:161014785-161015335	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr1:161014621-161016533	U87	brain:	n/a	n/a
40	POLR2A	chr1:161014375-161017763	GM12878	blood:	n/a	n/a
41	TAF1	chr1:161014838-161015137	GM12892	blood:	n/a	n/a
42	MAX	chr1:161014800-161016248	H1-hESC	embryonic stem cell:	n/a	n/a
43	MTA3	chr1:161014325-161017601	GM12878	blood:	n/a	n/a
44	POLR2A	chr1:161014974-161015259	HepG2	liver:	n/a	n/a
45	POLR2A	chr1:161014802-161016276	ECC-1	luminal epithelium:	n/a	n/a
46	CTBP2	chr1:161014986-161016125	H1-hESC	embryonic stem cell:	n/a	n/a
47	MTA3	chr1:161014514-161015278	GM12878	blood:	n/a	n/a
48	POLR2A	chr1:161014790-161016458	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:161014932-161015177	SK-N-SH	brain:	n/a	n/a
50	TAF1	chr1:161014860-161016346	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:161013722..161017299-chr1:161066199..161071039,5	MCF-7	breast:
2	chr1:160990576..160992373-chr1:161014612..161018487,6	K562	blood:
3	chr1:161013470..161017562-chr1:161084888..161088962,4	MCF-7	breast:
4	chr1:160989663..160992818-chr1:161011844..161017868,15	MCF-7	breast:
5	chr1:161014972..161017157-chr1:161051557..161054618,4	MCF-7	breast:
6	chr1:161013542..161018278-chr1:161100825..161104206,7	MCF-7	breast:
7	chr1:161013435..161019346-chr1:161039308..161043996,7	MCF-7	breast:
8	chr1:161014965..161015754-chr2:63815057..63815914,2	HCT-116	colon:
9	chr1:161012196..161017661-chr1:161066183..161070852,8	MCF-7	breast:
10	chr1:161014200..161017793-chr1:161057956..161063190,6	MCF-7	breast:
11	chr1:161014674..161017488-chr19:12900939..12902636,2	MCF-7	breast:
12	chr1:161012288..161019472-chr1:161047717..161055328,13	MCF-7	breast:
13	chr1:161013674..161020196-chr1:161084642..161090709,10	MCF-7	breast:
14	chr1:161014785..161017336-chr1:161283873..161286388,3	K562	blood:
15	chr1:161011663..161014033-chr1:161014079..161015803,2	K562	blood:
16	chr1:161014566..161017528-chr1:161100154..161103523,4	K562	blood:
17	chr1:160988929..160992185-chr1:161012707..161018170,8	MCF-7	breast:
18	chr1:160989721..160993044-chr1:161014364..161019082,7	K562	blood:
19	chr1:161013921..161016040-chr1:161036662..161039623,2	MCF-7	breast:
20	chr1:161014740..161015395-chr17:39844429..39845289,2	Hela-S3	cervix:

Variant related genes	Relation type
USF1	TF binding region
ENSG00000158793	Chromatin interaction
ENSG00000228917	Chromatin interaction
ENSG00000143951	Chromatin interaction
ENSG00000158773	Chromatin interaction
ENSG00000143217	Chromatin interaction
ENSG00000158769	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000162755	Chromatin interaction
ENSG00000014641	Chromatin interaction
ENSG00000173812	Chromatin interaction
ENSG00000158796	Chromatin interaction
ENSG00000143252	Chromatin interaction
ENSG00000186517	Chromatin interaction
ENSG00000143256	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10158361	1.00[AMR][1000 genomes]
rs12070248	1.00[AMR][1000 genomes]
rs56774086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161014000-161015200	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr1:161014000-161015400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
3	chr1:161014000-161016200	Active TSS	Muscle Satellite Cultured Cells	--
4	chr1:161014000-161016400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:161014000-161016400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr1:161014000-161017200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:161014200-161015200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
8	chr1:161014200-161016400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:161014200-161016400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:161014200-161016400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:161014200-161016400	Active TSS	Fetal Muscle Trunk	muscle
12	chr1:161014200-161016400	Active TSS	Lung	lung
13	chr1:161014200-161016400	Active TSS	Pancreas	Pancrea
14	chr1:161014200-161016600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:161014200-161016600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:161014200-161016800	Active TSS	GM12878-XiMat	blood
17	chr1:161014400-161015200	Active TSS	Right Atrium	heart
18	chr1:161014400-161015200	Transcr. at gene 5' and 3'	Dnd41	blood
19	chr1:161014400-161016000	Active TSS	Primary T killer memory cells from peripheral blood	blood
20	chr1:161014400-161016000	Active TSS	Small Intestine	intestine
21	chr1:161014400-161016200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:161014400-161016200	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr1:161014400-161016200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:161014400-161016200	Active TSS	Fetal Intestine Large	intestine
25	chr1:161014400-161016200	Active TSS	Placenta	Placenta
26	chr1:161014400-161016200	Active TSS	Stomach Mucosa	stomach
27	chr1:161014400-161016200	Active TSS	NHDF-Ad	bronchial
28	chr1:161014400-161016200	Active TSS	NHLF	lung
29	chr1:161014400-161016400	Active TSS	H9 Cell Line	embryonic stem cell
30	chr1:161014400-161016400	Active TSS	Aorta	Aorta
31	chr1:161014400-161016400	Active TSS	Colonic Mucosa	Colon
32	chr1:161014400-161016400	Active TSS	Esophagus	oesophagus
33	chr1:161014400-161016400	Active TSS	Left Ventricle	heart
34	chr1:161014400-161016400	Active TSS	Ovary	ovary
35	chr1:161014400-161016400	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr1:161014400-161016600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:161014400-161016600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:161014400-161016600	Active TSS	Fetal Intestine Small	intestine
39	chr1:161014400-161016600	Active TSS	Fetal Kidney	kidney
40	chr1:161014400-161016600	Active TSS	Thymus	Thymus
41	chr1:161014400-161016600	Active TSS	Osteobl	bone
42	chr1:161014400-161016800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:161014400-161017000	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:161014600-161016000	Active TSS	Primary monocytes fromperipheralblood	blood
45	chr1:161014600-161016000	Active TSS	Primary T cells from cord blood	blood
46	chr1:161014600-161016000	Active TSS	Primary T cells fromperipheralblood	blood
47	chr1:161014600-161016000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:161014600-161016000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:161014600-161016000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:161014600-161016000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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