Variant report

Variant	rs61879757
Chromosome Location	chr11:17229500-17229501
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	POLR2A	chr11:17229014-17230187	GM12878	blood:	n/a	n/a
2	TCF12	chr11:17229329-17229838	GM12878	blood:	n/a	chr11:17229782-17229789
3	MAX	chr11:17229114-17230320	HepG2	liver:	n/a	chr11:17230061-17230070 chr11:17229213-17229223 chr11:17230059-17230069 chr11:17230060-17230069 chr11:17230059-17230070 chr11:17230060-17230069 chr11:17230281-17230288 chr11:17230059-17230070
4	TCF3	chr11:17229357-17229598	GM12878	blood:	n/a	n/a
5	SIN3AK20	chr11:17229088-17230147	MCF-7	breast:	n/a	n/a
6	MAFK	chr11:17229275-17230326	Hela-S3	cervix:	n/a	n/a
7	TBL1XR1	chr11:17229361-17230390	K562	blood:	n/a	n/a
8	UBTF	chr11:17229349-17230172	K562	blood:	n/a	n/a
9	POLR2A	chr11:17229301-17230178	GM12891	blood:	n/a	n/a
10	MYC	chr11:17228880-17230407	K562	blood:	n/a	chr11:17230061-17230070 chr11:17229213-17229223 chr11:17230059-17230069 chr11:17230060-17230069 chr11:17230059-17230070 chr11:17230060-17230069 chr11:17230281-17230288 chr11:17230059-17230070
11	POLR2A	chr11:17229013-17230221	K562	blood:	n/a	n/a
12	YY1	chr11:17229221-17229632	K562	blood:	n/a	chr11:17229367-17229378
13	POLR2A	chr11:17229139-17230250	GM12891	blood:	n/a	n/a
14	RFX5	chr11:17229364-17230154	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:17229095-17230265	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:17229278-17230198	HCT-116	colon:	n/a	n/a
17	POLR2A	chr11:17229092-17230034	MCF-7	breast:	n/a	n/a
18	TAF1	chr11:17228987-17230297	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:17229236-17230266	GM12892	blood:	n/a	n/a
20	MAX	chr11:17229404-17229832	K562	blood:	n/a	n/a
21	CREB1	chr11:17229237-17229815	H1-hESC	embryonic stem cell:	n/a	n/a
22	CHD2	chr11:17228967-17230164	Hela-S3	cervix:	n/a	n/a
23	TAF1	chr11:17229284-17229710	GM12892	blood:	n/a	n/a
24	JUND	chr11:17229341-17229742	HepG2	liver:	n/a	chr11:17229611-17229620
25	SIN3AK20	chr11:17228974-17229843	H1-hESC	embryonic stem cell:	n/a	n/a
26	SMC3	chr11:17229132-17230215	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr11:17229057-17230247	Hela-S3	cervix:	n/a	n/a
28	RFX5	chr11:17229263-17231165	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr11:17229176-17230291	PANC-1	pancreas:	n/a	n/a
30	POLR2A	chr11:17228963-17230266	GM12892	blood:	n/a	n/a
31	REST	chr11:17229280-17229695	PFSK-1	brain:	n/a	n/a
32	ZNF384	chr11:17229404-17230074	K562	blood:	n/a	n/a
33	POLR2A	chr11:17228926-17231524	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr11:17228398-17231161	MCF10A-Er-Src	breast:	n/a	n/a
35	BHLHE40	chr11:17229108-17230515	K562	blood:	n/a	chr11:17229779-17229795
36	YY1	chr11:17229402-17229555	HCT-116	colon:	n/a	n/a
37	GATA3	chr11:17228862-17230271	A549	lung:	n/a	n/a
38	MAX	chr11:17229072-17230294	MCF-7	breast:	n/a	chr11:17230061-17230070 chr11:17229213-17229223 chr11:17230059-17230069 chr11:17230060-17230069 chr11:17230059-17230070 chr11:17230060-17230069 chr11:17230281-17230288 chr11:17230059-17230070
39	MAX	chr11:17228959-17230537	NB4	blood:	n/a	chr11:17230061-17230070 chr11:17229213-17229223 chr11:17230059-17230069 chr11:17230060-17230069 chr11:17230059-17230070 chr11:17230060-17230069 chr11:17230281-17230288 chr11:17230059-17230070
40	E2F6	chr11:17229051-17230175	K562	blood:	n/a	chr11:17229612-17229621
41	POU2F2	chr11:17229204-17229766	GM12878	blood:	n/a	chr11:17229329-17229341
42	POLR2A	chr11:17229157-17230009	A549	lung:	n/a	n/a
43	USF1	chr11:17229399-17230399	SK-N-SH_RA	brain:	n/a	chr11:17229779-17229795
44	MYC	chr11:17229103-17230422	MCF10A-Er-Src	breast:	n/a	chr11:17230061-17230070 chr11:17229213-17229223 chr11:17230059-17230069 chr11:17230060-17230069 chr11:17230059-17230070 chr11:17230060-17230069 chr11:17230281-17230288 chr11:17230059-17230070
45	SP1	chr11:17229218-17230131	A549	lung:	n/a	chr11:17229611-17229623 chr11:17229613-17229622 chr11:17229611-17229623 chr11:17229755-17229766 chr11:17229751-17229764
46	MAX	chr11:17228961-17230521	K562	blood:	n/a	chr11:17230061-17230070 chr11:17229213-17229223 chr11:17230059-17230069 chr11:17230060-17230069 chr11:17230059-17230070 chr11:17230060-17230069 chr11:17230281-17230288 chr11:17230059-17230070
47	MAFK	chr11:17229365-17229741	H1-hESC	embryonic stem cell:	n/a	n/a
48	YY1	chr11:17229297-17229729	K562	blood:	n/a	chr11:17229367-17229378
49	RCOR1	chr11:17229309-17230360	HepG2	liver:	n/a	n/a
50	REST	chr11:17229199-17230284	A549	lung:	n/a	chr11:17229863-17229876

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:17229487-17229537	H1-hESC	embryonic stem cell:	embryo
2	chr11:17229487-17229537	SKMC	muscle:	n/a
3	chr11:17229487-17229537	AG04449	skin:	fetal
4	chr11:17229487-17229537	BJ	skin:	n/a
5	chr11:17229487-17229537	HRE	kidney:	n/a
6	chr11:17229487-17229537	BE2_C	brain:	n/a
7	chr11:17229487-17229537	U87	brain:	n/a
8	chr11:17229487-17229537	LNCaP	prostate:	n/a
9	chr11:17229487-17229537	HepG2	liver:	n/a
10	chr11:17229487-17229537	NHBE	bronchial:	n/a
11	chr11:17229487-17229537	HNPCEpiC	eye:	n/a
12	chr11:17229487-17229537	MCF10A-Er-Src	breast:	n/a
13	chr11:17229487-17229537	SK-N-MC	brain:	n/a
14	chr11:17229487-17229537	HCF	heart:	n/a
15	chr11:17229487-17229537	SK-N-SH_RA	brain:	n/a
16	chr11:17229487-17229537	GM06990	blood:	n/a
17	chr11:17229487-17229537	IMR90	lung:	fetal
18	chr11:17229487-17229537	HEK293	kidney:	embryo
19	chr11:17229487-17229537	AG04450	lung:	fetal
20	chr11:17229487-17229537	HCPEpiC	choroid plexus:	n/a
21	chr11:17229487-17229537	AG09319	gingival:	n/a
22	chr11:17229487-17229537	SK-N-SH	brain:	n/a
23	chr11:17229487-17229537	HAEpiC	amniotic membrane:	n/a
24	chr11:17229487-17229537	GM12878	blood:	n/a
25	chr11:17229487-17229537	HRCEpiC	kidney:	n/a
26	chr11:17229487-17229537	HPAEpiC	pulmonary alveolar:	n/a
27	chr11:17229487-17229537	HCT-116	colon:	n/a
28	chr11:17229487-17229537	Hepatocyte	liver:	n/a
29	chr11:17229487-17229537	NHDF-neo	bronchial:	n/a
30	chr11:17229487-17229537	AoSMC	blood vessel:	n/a
31	chr11:17229487-17229537	K562	blood:	n/a
32	chr11:17229487-17229537	RPTEC	kidney:	n/a
33	chr11:17229487-17229537	NH-A	brain:	n/a
34	chr11:17229487-17229537	PrEC	prostate:	n/a
35	chr11:17229487-17229537	ECC-1	luminal epithelium:	n/a
36	chr11:17229487-17229537	GM12892	blood:	n/a
37	chr11:17229487-17229537	HL-60	blood:	n/a
38	chr11:17229487-17229537	HMEC	breast:	n/a
39	chr11:17229487-17229537	NB4	blood:	n/a
40	chr11:17229487-17229537	CMK	blood:	n/a
41	chr11:17229487-17229537	HCM	heart:	n/a
42	chr11:17229487-17229537	NT2-D1	testis:	n/a
43	chr11:17229487-17229537	A549	lung:	n/a
44	chr11:17229487-17229537	HIPEpiC	eye:	n/a
45	chr11:17229487-17229537	ovcar-3	ovarian:	n/a
46	chr11:17229487-17229537	ProgFib	skin:	n/a
47	chr11:17229487-17229537	AG09309	skin:	n/a
48	chr11:17229487-17229537	T-47D	breast:	n/a
49	chr11:17229487-17229537	GM12891	blood:	n/a
50	chr11:17229487-17229537	SAEC	small airway:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:17229389..17230099-chr11:17410468..17411417,2	K562	blood:
2	chr11:17229082..17229842-chr12:57082035..57082806,2	Hela-S3	cervix:
3	chr11:17214868..17217658-chr11:17229098..17231108,2	MCF-7	breast:
4	chr11:17229425..17232064-chr11:17297458..17300131,2	K562	blood:
5	chr11:17229045..17230754-chr11:17298034..17300385,2	MCF-7	breast:
6	chr11:17190589..17193043-chr11:17228030..17230019,2	MCF-7	breast:
7	chr1:36771726..36772530-chr11:17229104..17229999,2	Hela-S3	cervix:
8	chr1:151965647..151966378-chr11:17229031..17229603,2	Hela-S3	cervix:
9	chr11:17227592..17232225-chr11:17372606..17377021,9	K562	blood:
10	chr11:17097742..17101154-chr11:17227974..17231312,6	MCF-7	breast:
11	chr1:36689400..36690646-chr11:17228897..17229639,3	Hela-S3	cervix:
12	chr11:17094856..17097184-chr11:17228610..17231252,2	K562	blood:
13	chr11:17096429..17100576-chr11:17227768..17230724,6	K562	blood:
14	chr11:17097048..17102595-chr11:17228016..17231208,7	MCF-7	breast:
15	chr11:17097208..17101887-chr11:17227768..17230798,9	K562	blood:
16	chr11:17229455..17230019-chr20:30194667..30195263,2	Hela-S3	cervix:
17	chr11:17228155..17229875-chr11:18033843..18035455,2	K562	blood:
18	chr11:17229468..17231636-chr11:17279187..17282001,2	MCF-7	breast:

Variant related genes	Relation type
NUCB2	TF binding region
PIK3C2A	TF binding region
PIK3C2A	CpG island
NUCB2	CpG island
ENSG00000110958	Chromatin interaction
ENSG00000264395	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000214193	Chromatin interaction
ENSG00000188211	Chromatin interaction
ENSG00000011405	Chromatin interaction
ENSG00000201403	Chromatin interaction
ENSG00000110700	Chromatin interaction
ENSG00000221322	Chromatin interaction
ENSG00000213779	Chromatin interaction
ENSG00000187486	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000272034	Chromatin interaction
ENSG00000054118	Chromatin interaction
ENSG00000129158	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11607550	1.00[ASN][1000 genomes]
rs61879730	1.00[ASN][1000 genomes]
rs61881887	1.00[ASN][1000 genomes]

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	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS 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	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 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	chr11:17227200-17230000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:17227400-17231400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:17227600-17230800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:17227600-17231000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr11:17227800-17230200	Active TSS	GM12878-XiMat	blood
6	chr11:17227800-17231200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:17227800-17231400	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr11:17227800-17231400	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr11:17228000-17230200	Active TSS	HMEC	breast
10	chr11:17228000-17230200	Active TSS	K562	blood
11	chr11:17228000-17230400	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:17228000-17230600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr11:17228000-17230800	Active TSS	H1 Cell Line	embryonic stem cell
14	chr11:17228000-17230800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:17228000-17230800	Active TSS	Brain Angular Gyrus	brain
16	chr11:17228000-17230800	Active TSS	Lung	lung
17	chr11:17228000-17230800	Active TSS	Right Atrium	heart
18	chr11:17228000-17230800	Active TSS	Right Ventricle	heart
19	chr11:17228000-17230800	Active TSS	NHLF	lung
20	chr11:17228000-17231000	Active TSS	H9 Cell Line	embryonic stem cell
21	chr11:17228000-17231000	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr11:17228000-17231200	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr11:17228000-17231400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:17228000-17231600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr11:17228200-17230000	Active TSS	Fetal Stomach	stomach
26	chr11:17228200-17230000	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr11:17228200-17230000	Active TSS	NHDF-Ad	bronchial
28	chr11:17228200-17230200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:17228200-17230200	Active TSS	Fetal Intestine Large	intestine
30	chr11:17228200-17230200	Active TSS	Fetal Intestine Small	intestine
31	chr11:17228200-17230200	Active TSS	HSMMtube	muscle
32	chr11:17228200-17230400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:17228200-17230400	Active TSS	Brain Substantia Nigra	brain
34	chr11:17228200-17230600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:17228200-17230600	Active TSS	Left Ventricle	heart
36	chr11:17228200-17230800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr11:17228200-17231200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr11:17228200-17231200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr11:17228400-17229600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr11:17228400-17229800	Active TSS	Muscle Satellite Cultured Cells	--
41	chr11:17228400-17229800	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr11:17228400-17229800	Active TSS	NH-A	brain
43	chr11:17228400-17230000	Active TSS	Fetal Muscle Leg	muscle
44	chr11:17228400-17230000	Active TSS	HUVEC	blood vessel
45	chr11:17228400-17230200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:17228400-17230200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:17228400-17230200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:17228400-17230200	Active TSS	Aorta	Aorta
49	chr11:17228400-17230200	Active TSS	Ovary	ovary
50	chr11:17228400-17230200	Active TSS	HSMM	muscle

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