Variant report

Variant	rs61906171
Chromosome Location	chr11:86749027-86749028
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	MBD4	chr11:86748390-86749133	HepG2	liver:	n/a	n/a
2	MAX	chr11:86748477-86749283	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3AK20	chr11:86748770-86749273	H1-hESC	embryonic stem cell:	n/a	n/a
4	TAF1	chr11:86748491-86749235	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFYB	chr11:86748735-86749087	Hela-S3	cervix:	n/a	n/a
6	ARID3A	chr11:86747784-86749121	HepG2	liver:	n/a	n/a
7	TBL1XR1	chr11:86748073-86749246	K562	blood:	n/a	n/a
8	NR2F2	chr11:86747924-86749552	K562	blood:	n/a	chr11:86748957-86748972
9	USF1	chr11:86748652-86749174	K562	blood:	n/a	n/a
10	SIN3AK20	chr11:86748596-86749170	SK-N-SH	brain:	n/a	n/a
11	CTCF	chr11:86748980-86749130	AoAF	blood vessel:	n/a	chr11:86749029-86749042
12	CHD2	chr11:86748528-86749198	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:86748529-86749213	H1-hESC	embryonic stem cell:	n/a	n/a
14	GTF2B	chr11:86748645-86749227	K562	blood:	n/a	n/a
15	SREBP1	chr11:86747590-86750481	GM12878	blood:	n/a	chr11:86748528-86748542
16	SIN3A	chr11:86748099-86749889	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr11:86748611-86749263	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:86748439-86749332	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:86748470-86749284	HCT-116	colon:	n/a	n/a
20	CTCF	chr11:86748920-86749070	SAEC	small airway:	n/a	chr11:86749029-86749042
21	NR3C1	chr11:86748582-86749213	A549	lung:	n/a	chr11:86748859-86748872
22	ZNF143	chr11:86748343-86749150	H1-hESC	embryonic stem cell:	n/a	chr11:86748858-86748876
23	CTCF	chr11:86748960-86749110	HCPEpiC	choroid plexus:	n/a	chr11:86749029-86749042
24	POLR2A	chr11:86748422-86749358	GM18505	blood:	n/a	n/a
25	CTCF	chr11:86748940-86749090	K562	blood:	n/a	chr11:86749029-86749042
26	POLR2A	chr11:86748063-86749588	HepG2	liver:	n/a	n/a
27	POLR2A	chr11:86748513-86749252	SK-N-SH	brain:	n/a	n/a
28	USF1	chr11:86748717-86749055	SK-N-SH_RA	brain:	n/a	n/a
29	MAX	chr11:86748115-86749439	HCT-116	colon:	n/a	n/a
30	SP4	chr11:86748589-86749270	H1-hESC	embryonic stem cell:	n/a	chr11:86748885-86748901 chr11:86748885-86748896 chr11:86748865-86748876
31	JUND	chr11:86748580-86749155	HepG2	liver:	n/a	chr11:86748868-86748877
32	E2F6	chr11:86748448-86749139	H1-hESC	embryonic stem cell:	n/a	chr11:86748809-86748820 chr11:86748674-86748683 chr11:86748800-86748809 chr11:86748850-86748859 chr11:86748867-86748876
33	CHD2	chr11:86748421-86749428	Hela-S3	cervix:	n/a	n/a
34	TCF12	chr11:86748126-86749492	A549	lung:	n/a	chr11:86748979-86748986
35	SMC3	chr11:86748324-86749122	K562	blood:	n/a	n/a
36	MYBL2	chr11:86747970-86749317	HepG2	liver:	n/a	n/a
37	POLR2A	chr11:86748478-86749222	GM12891	blood:	n/a	n/a
38	YY1	chr11:86748279-86749474	H1-hESC	embryonic stem cell:	n/a	chr11:86748707-86748718 chr11:86748800-86748809 chr11:86748803-86748812
39	RXRA	chr11:86748630-86749166	H1-hESC	embryonic stem cell:	n/a	chr11:86748957-86748977 chr11:86748961-86748974 chr11:86748961-86748974 chr11:86748961-86748975 chr11:86748961-86748974
40	CREB1	chr11:86748509-86749214	A549	lung:	n/a	n/a
41	RELA	chr11:86748212-86749870	GM15510	blood:	n/a	chr11:86748412-86748421 chr11:86748412-86748421
42	PAX5	chr11:86748606-86749253	GM12878	blood:	n/a	chr11:86748850-86748859
43	BRCA1	chr11:86748403-86749753	Hela-S3	cervix:	n/a	n/a
44	KAP1	chr11:86748252-86749192	HEK293	kidney:	n/a	n/a
45	POLR2A	chr11:86748502-86749205	SK-N-MC	brain:	n/a	n/a
46	TBP	chr11:86748057-86749145	HepG2	liver:	n/a	n/a
47	MAX	chr11:86747941-86749377	A549	lung:	n/a	n/a
48	CTCF	chr11:86748980-86749130	GM12867	blood:	n/a	chr11:86749029-86749042
49	RAD21	chr11:86748371-86749448	H1-hESC	embryonic stem cell:	n/a	chr11:86748495-86748509
50	SIN3A	chr11:86748647-86749239	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:

Variant related genes	Relation type
TMEM135	TF binding region
ENSG00000246523	Chromatin interaction
ENSG00000174804	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11606641	0.90[ASN][1000 genomes]
rs11822478	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11824454	0.85[ASN][1000 genomes]
rs11825467	0.85[ASN][1000 genomes]
rs4471456	0.90[ASN][1000 genomes]
rs56338039	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61903846	0.95[ASN][1000 genomes]
rs61903847	0.95[ASN][1000 genomes]
rs61903848	0.95[ASN][1000 genomes]
rs61904178	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61904179	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61904181	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61904207	0.85[ASN][1000 genomes]
rs61906168	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61906195	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61906204	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61906205	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61906206	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7941361	0.95[ASN][1000 genomes]
rs7950416	0.85[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	nsv1044081	chr11:86133641-86868560	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv541118	chr11:86133641-86868560	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1037042	chr11:86586876-86978492	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv541119	chr11:86586876-86978492	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr11:86748000-86749600	Active TSS	Fetal Brain Female	brain
2	chr11:86748000-86749800	Active TSS	Fetal Intestine Large	intestine
3	chr11:86748000-86750000	Active TSS	Colonic Mucosa	Colon
4	chr11:86748000-86750200	Active TSS	Fetal Kidney	kidney
5	chr11:86748000-86750400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr11:86748000-86750400	Active TSS	Fetal Intestine Small	intestine
7	chr11:86748000-86750600	Active TSS	Brain Cingulate Gyrus	brain
8	chr11:86748000-86750800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr11:86748000-86751000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:86748200-86749400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:86748200-86749600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:86748200-86749600	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr11:86748200-86749600	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr11:86748200-86749600	Active TSS	Esophagus	oesophagus
15	chr11:86748200-86749600	Active TSS	Right Ventricle	heart
16	chr11:86748200-86749800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr11:86748200-86749800	Flanking Active TSS	Primary B cells from cord blood	blood
18	chr11:86748200-86749800	Active TSS	Fetal Muscle Trunk	muscle
19	chr11:86748200-86749800	Active TSS	Gastric	stomach
20	chr11:86748200-86749800	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr11:86748200-86750000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:86748200-86750000	Active TSS	A549	lung
23	chr11:86748200-86750200	Active TSS	HSMMtube	muscle
24	chr11:86748200-86750400	Active TSS	Left Ventricle	heart
25	chr11:86748200-86750800	Active TSS	Psoas Muscle	Psoas
26	chr11:86748200-86751000	Active TSS	Ovary	ovary
27	chr11:86748200-86751400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr11:86748400-86749400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
29	chr11:86748400-86749400	Active TSS	Thymus	Thymus
30	chr11:86748400-86749600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:86748400-86749600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr11:86748400-86749600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr11:86748400-86749600	Active TSS	Spleen	Spleen
34	chr11:86748400-86749600	Bivalent/Poised TSS	HepG2	liver
35	chr11:86748400-86749800	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr11:86748400-86749800	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr11:86748400-86749800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr11:86748400-86749800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr11:86748400-86750000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:86748400-86750200	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr11:86748400-86750200	Active TSS	Colon Smooth Muscle	Colon
42	chr11:86748400-86750200	Active TSS	HSMM	muscle
43	chr11:86748400-86750600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr11:86748400-86750600	Active TSS	H9 Cell Line	embryonic stem cell
45	chr11:86748400-86750600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr11:86748400-86751200	Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr11:86748400-86751200	Active TSS	Aorta	Aorta
48	chr11:86748400-86751800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:86748400-86752000	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr11:86748600-86749200	Active TSS	Primary T helper cells fromperipheralblood	blood

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