Variant report

Variant	rs1681501
Chromosome Location	chr11:72505061-72505062
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	YY1	chr11:72504735-72505388	K562	blood:	n/a	n/a
2	ZNF143	chr11:72504541-72505446	H1-hESC	embryonic stem cell:	n/a	chr11:72505139-72505148 chr11:72505141-72505150 chr11:72505241-72505259 chr11:72505190-72505199 chr11:72505132-72505150
3	SIN3AK20	chr11:72504777-72505349	H1-hESC	embryonic stem cell:	n/a	n/a
4	FOS	chr11:72504489-72505318	MCF10A-Er-Src	breast:	n/a	n/a
5	CTCF	chr11:72504629-72505079	GM20000	blood:	n/a	chr11:72504869-72504879 chr11:72504868-72504881 chr11:72504868-72504881 chr11:72504866-72504884 chr11:72504872-72504881 chr11:72504867-72504883 chr11:72504861-72504882
6	MYC	chr11:72505036-72505265	K562	blood:	n/a	chr11:72505055-72505064 chr11:72505058-72505065
7	FOS	chr11:72504409-72505270	HUVEC	blood vessel:	n/a	n/a
8	HCFC1	chr11:72504381-72505706	K562	blood:	n/a	n/a
9	POLR2A	chr11:72504596-72505359	GM18951	blood:	n/a	n/a
10	POLR2A	chr11:72504753-72505174	U87	brain:	n/a	n/a
11	ATF3	chr11:72504272-72505184	A549	lung:	n/a	n/a
12	TCF12	chr11:72504882-72505171	GM12878	blood:	n/a	n/a
13	CEBPB	chr11:72504669-72505356	HepG2	liver:	n/a	n/a
14	SMARCB1	chr11:72504599-72505596	Hela-S3	cervix:	n/a	chr11:72505190-72505199 chr11:72505141-72505150
15	YY1	chr11:72504651-72505278	HCT-116	colon:	n/a	n/a
16	POLR2A	chr11:72504638-72505286	ECC-1	luminal epithelium:	n/a	n/a
17	TAF1	chr11:72504662-72505441	ECC-1	luminal epithelium:	n/a	n/a
18	MTA3	chr11:72504279-72505348	GM12878	blood:	n/a	n/a
19	MAZ	chr11:72504388-72505080	HepG2	liver:	n/a	chr11:72504718-72504727 chr11:72505055-72505064 chr11:72505058-72505065
20	POLR2A	chr11:72504670-72505190	U87	brain:	n/a	n/a
21	MYC	chr11:72504330-72505338	K562	blood:	n/a	chr11:72504718-72504727 chr11:72505055-72505064 chr11:72505058-72505065
22	STAT5A	chr11:72504322-72505362	GM12878	blood:	n/a	chr11:72504554-72504561
23	USF1	chr11:72505031-72505355	H1-hESC	embryonic stem cell:	n/a	n/a
24	RCOR1	chr11:72504470-72505281	HepG2	liver:	n/a	n/a
25	SMC3	chr11:72503960-72505558	SK-N-SH	brain:	n/a	chr11:72504868-72504882
26	POLR2A	chr11:72504528-72505346	HL-60	blood:	n/a	n/a
27	POLR2A	chr11:72504532-72505293	GM15510	blood:	n/a	n/a
28	TEAD4	chr11:72504729-72505397	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr11:72504527-72505378	Hela-S3	cervix:	n/a	n/a
30	MAFK	chr11:72504476-72505263	K562	blood:	n/a	n/a
31	RAD21	chr11:72504323-72505323	MCF-7	breast:	n/a	chr11:72504864-72504883 chr11:72505061-72505075
32	TAF1	chr11:72504727-72505293	H1-hESC	embryonic stem cell:	n/a	n/a
33	RELA	chr11:72504383-72505426	GM12878	blood:	n/a	n/a
34	BRCA1	chr11:72504612-72505276	HepG2	liver:	n/a	n/a
35	POLR2A	chr11:72504597-72505382	HCT-116	colon:	n/a	n/a
36	TCF3	chr11:72504774-72505112	GM12878	blood:	n/a	n/a
37	HEY1	chr11:72504434-72505417	HepG2	liver:	n/a	n/a
38	CHD2	chr11:72504512-72505359	GM12878	blood:	n/a	n/a
39	SP1	chr11:72504609-72505302	GM12878	blood:	n/a	chr11:72504858-72504872 chr11:72504865-72504879 chr11:72504866-72504875 chr11:72504864-72504876 chr11:72504864-72504876
40	GTF2F1	chr11:72504639-72505208	H1-hESC	embryonic stem cell:	n/a	n/a
41	TCF7L2	chr11:72504671-72505270	HCT-116	colon:	n/a	n/a
42	E2F6	chr11:72504397-72505232	H1-hESC	embryonic stem cell:	n/a	chr11:72504805-72504817 chr11:72504863-72504875 chr11:72504750-72504759 chr11:72504797-72504806 chr11:72505115-72505129
43	FOXA1	chr11:72504496-72505324	HepG2	liver:	n/a	n/a
44	POLR2A	chr11:72504679-72505289	MCF-7	breast:	n/a	n/a
45	USF2	chr11:72504372-72505389	Hela-S3	cervix:	n/a	n/a
46	ELF1	chr11:72504688-72505277	A549	lung:	n/a	n/a
47	PAX5	chr11:72504628-72505141	GM12892	blood:	n/a	chr11:72504797-72504806
48	MAX	chr11:72504387-72505478	MCF-7	breast:	n/a	chr11:72504718-72504727 chr11:72505055-72505064 chr11:72505058-72505065
49	POLR2A	chr11:72504425-72505409	H1-neurons	neurons:	n/a	n/a
50	ELK1	chr11:72504468-72505283	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:72505046-72505096	HRCEpiC	kidney:	n/a
2	chr11:72505046-72505096	Hepatocyte	liver:	n/a
3	chr11:72505046-72505096	HCT-116	colon:	n/a
4	chr11:72505046-72505096	AG04450	lung:	fetal
5	chr11:72505046-72505096	T-47D	breast:	n/a
6	chr11:72505046-72505096	RPTEC	kidney:	n/a
7	chr11:72505046-72505096	AG09319	gingival:	n/a
8	chr11:72505046-72505096	HUVEC	blood vessel:	n/a
9	chr11:72505046-72505096	MCF10A-Er-Src	breast:	n/a
10	chr11:72505046-72505096	NB4	blood:	n/a
11	chr11:72505046-72505096	GM12891	blood:	n/a
12	chr11:72505046-72505096	MCF-7	breast:	n/a
13	chr11:72505046-72505096	HMEC	breast:	n/a
14	chr11:72505046-72505096	GM19239	blood:	n/a
15	chr11:72505046-72505096	Jurkat	blood:	n/a
16	chr11:72505046-72505096	HEK293	kidney:	embryo
17	chr11:72505046-72505096	NHBE	bronchial:	n/a
18	chr11:72505046-72505096	AoSMC	blood vessel:	n/a
19	chr11:72505046-72505096	H1-hESC	embryonic stem cell:	embryo
20	chr11:72505046-72505096	SKMC	muscle:	n/a
21	chr11:72505046-72505096	AG10803	skin:	n/a
22	chr11:72505046-72505096	GM12878	blood:	n/a
23	chr11:72505046-72505096	SK-N-SH_RA	brain:	n/a
24	chr11:72505046-72505096	HAEpiC	amniotic membrane:	n/a
25	chr11:72505046-72505096	IMR90	lung:	fetal
26	chr11:72505046-72505096	A549	lung:	n/a
27	chr11:72505046-72505096	ProgFib	skin:	n/a
28	chr11:72505046-72505096	GM06990	blood:	n/a
29	chr11:72505046-72505096	NH-A	brain:	n/a
30	chr11:72505046-72505096	HIPEpiC	eye:	n/a
31	chr11:72505046-72505096	HCF	heart:	n/a
32	chr11:72505046-72505096	HPAEpiC	pulmonary alveolar:	n/a
33	chr11:72505046-72505096	U87	brain:	n/a
34	chr11:72505046-72505096	Hela-S3	cervix:	n/a
35	chr11:72505046-72505096	BE2_C	brain:	n/a
36	chr11:72505046-72505096	HL-60	blood:	n/a
37	chr11:72505046-72505096	PFSK-1	brain:	n/a
38	chr11:72505046-72505096	ECC-1	luminal epithelium:	n/a
39	chr11:72505046-72505096	NHDF-neo	bronchial:	n/a
40	chr11:72505046-72505096	AG04449	skin:	fetal
41	chr11:72505046-72505096	GM12892	blood:	n/a
42	chr11:72505046-72505096	CMK	blood:	n/a
43	chr11:72505046-72505096	LNCaP	prostate:	n/a
44	chr11:72505046-72505096	SK-N-SH	brain:	n/a
45	chr11:72505046-72505096	NT2-D1	testis:	n/a
46	chr11:72505046-72505096	PrEC	prostate:	n/a
47	chr11:72505046-72505096	K562	blood:	n/a
48	chr11:72505046-72505096	HCPEpiC	choroid plexus:	n/a
49	chr11:72505046-72505096	HEEpiC	esophagus:	n/a
50	chr11:72505046-72505096	SK-N-MC	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:72502078..72507217-chr11:72523813..72527208,9	K562	blood:
2	chr11:72504689..72505257-chr12:112856305..112856856,2	Hela-S3	cervix:
3	chr11:72504451..72505136-chr11:72525016..72525872,2	MCF-7	breast:
4	chr11:72432212..72438079-chr11:72503579..72507160,8	MCF-7	breast:
5	chr11:72487526..72509577-chr11:72522325..72536312,93	MCF-7	breast:
6	chr11:72503176..72507418-chr11:72523751..72527635,5	MCF-7	breast:
7	chr11:72433323..72435429-chr11:72502768..72506514,3	K562	blood:
8	chr11:72462706..72465111-chr11:72501934..72505822,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARAP1-1	chr11:72504669-72505213	NONHSAT022799

Variant related genes	Relation type
ARAP1	TF binding region
STARD10	TF binding region
STARD10	CpG island
ARAP1	CpG island
ENSG00000168010	Chromatin interaction
ENSG00000179295	Chromatin interaction
ENSG00000186635	Chromatin interaction
ENSG00000089009	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1025411	1.00[AFR][1000 genomes]
rs10736789	1.00[AFR][1000 genomes]
rs10751212	1.00[AFR][1000 genomes]
rs10751220	1.00[AFR][1000 genomes]
rs10751221	1.00[AFR][1000 genomes]
rs10898882	1.00[AFR][1000 genomes]
rs11235602	1.00[AFR][1000 genomes]
rs12278657	1.00[AFR][1000 genomes]
rs1367698	1.00[AFR][1000 genomes]
rs1785219	1.00[AFR][1000 genomes]
rs1808621	1.00[AFR][1000 genomes]
rs1982038	1.00[AFR][1000 genomes]
rs2043156	1.00[AFR][1000 genomes]
rs2116235	1.00[AFR][1000 genomes]
rs2365906	1.00[AFR][1000 genomes]
rs2365908	1.00[AFR][1000 genomes]
rs2365909	1.00[AFR][1000 genomes]
rs3862793	1.00[AFR][1000 genomes]
rs3862795	1.00[AFR][1000 genomes]
rs3903492	1.00[AFR][1000 genomes]
rs4329714	1.00[AFR][1000 genomes]
rs4373969	1.00[AFR][1000 genomes]
rs4594026	1.00[AFR][1000 genomes]
rs4643105	1.00[AFR][1000 genomes]
rs479093	1.00[AFR][1000 genomes]
rs4944015	1.00[AFR][1000 genomes]
rs4944017	1.00[AFR][1000 genomes]
rs494413	1.00[AFR][1000 genomes]
rs4944812	1.00[AFR][1000 genomes]
rs4944817	1.00[AFR][1000 genomes]
rs4944818	1.00[AFR][1000 genomes]
rs537980	1.00[AFR][1000 genomes]
rs560258	1.00[AFR][1000 genomes]
rs560857	1.00[AFR][1000 genomes]
rs593301	1.00[AFR][1000 genomes]
rs640283	1.00[AFR][1000 genomes]
rs658164	1.00[AFR][1000 genomes]
rs6592488	1.00[AFR][1000 genomes]
rs6592492	1.00[AFR][1000 genomes]
rs6592493	1.00[AFR][1000 genomes]
rs6592499	1.00[AFR][1000 genomes]
rs6592501	1.00[AFR][1000 genomes]
rs671766	1.00[AFR][1000 genomes]
rs7101936	1.00[AFR][1000 genomes]
rs7115321	1.00[AFR][1000 genomes]
rs7122570	1.00[AFR][1000 genomes]
rs7129851	1.00[AFR][1000 genomes]
rs7931372	1.00[AFR][1000 genomes]
rs7937866	1.00[AFR][1000 genomes]
rs7945119	1.00[AFR][1000 genomes]
rs7947513	1.00[AFR][1000 genomes]
rs7948244	1.00[AFR][1000 genomes]
rs7950432	1.00[AFR][1000 genomes]
rs919600	1.00[AFR][1000 genomes]
rs9795303	1.00[AFR][1000 genomes]
rs994305	1.00[AFR][1000 genomes]

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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv825992	chr11:72476174-72524295	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 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	chr11:72503800-72506200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr11:72504000-72505800	Enhancers	Small Intestine	intestine
3	chr11:72504200-72505400	Active TSS	Colonic Mucosa	Colon
4	chr11:72504200-72505600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
5	chr11:72504200-72505600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
6	chr11:72504200-72505800	Flanking Active TSS	Primary B cells from cord blood	blood
7	chr11:72504200-72506000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr11:72504400-72505200	Active TSS	Fetal Muscle Trunk	muscle
9	chr11:72504400-72505400	Active TSS	H1 Cell Line	embryonic stem cell
10	chr11:72504400-72505400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr11:72504400-72505400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:72504400-72505400	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr11:72504400-72505400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr11:72504400-72505400	Active TSS	Brain Germinal Matrix	brain
15	chr11:72504400-72505400	Active TSS	Ovary	ovary
16	chr11:72504400-72505600	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr11:72504400-72505600	Active TSS	Fetal Kidney	kidney
18	chr11:72504600-72505200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr11:72504600-72505200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
20	chr11:72504600-72505200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:72504600-72505200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr11:72504600-72505200	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr11:72504600-72505200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:72504600-72505200	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr11:72504600-72505200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr11:72504600-72505200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr11:72504600-72505200	Active TSS	Breast Myoepithelial Primary Cells	Breast
28	chr11:72504600-72505200	Active TSS	Primary T cells from cord blood	blood
29	chr11:72504600-72505200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr11:72504600-72505200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr11:72504600-72505200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr11:72504600-72505200	Active TSS	Muscle Satellite Cultured Cells	--
33	chr11:72504600-72505200	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr11:72504600-72505200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr11:72504600-72505200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:72504600-72505200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr11:72504600-72505200	Active TSS	Adipose Nuclei	Adipose
38	chr11:72504600-72505200	Active TSS	Duodenum Mucosa	Duodenum
39	chr11:72504600-72505200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr11:72504600-72505200	Active TSS	Fetal Intestine Small	intestine
41	chr11:72504600-72505200	Active TSS	Fetal Lung	lung
42	chr11:72504600-72505200	Active TSS	Rectal Mucosa Donor 29	rectum
43	chr11:72504600-72505200	Active TSS	Rectal Mucosa Donor 31	rectum
44	chr11:72504600-72505200	Active TSS	Rectal Smooth Muscle	rectum
45	chr11:72504600-72505200	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr11:72504600-72505200	Active TSS	Stomach Mucosa	stomach
47	chr11:72504600-72505200	Active TSS	Thymus	Thymus
48	chr11:72504600-72505200	Active TSS	Spleen	Spleen
49	chr11:72504600-72505200	Active TSS	A549	lung
50	chr11:72504600-72505200	Active TSS	GM12878-XiMat	blood

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