Variant report

Variant	rs2512367
Chromosome Location	chr11:86748492-86748493
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	TAF1	chr11:86748491-86749235	H1-hESC	embryonic stem cell:	n/a	n/a
4	ARID3A	chr11:86747784-86749121	HepG2	liver:	n/a	n/a
5	TBL1XR1	chr11:86748073-86749246	K562	blood:	n/a	n/a
6	NR2F2	chr11:86747924-86749552	K562	blood:	n/a	chr11:86748957-86748972
7	SREBP1	chr11:86747590-86750481	GM12878	blood:	n/a	chr11:86748528-86748542
8	SIN3A	chr11:86748099-86749889	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr11:86748439-86749332	GM12892	blood:	n/a	n/a
10	POLR2A	chr11:86748470-86749284	HCT-116	colon:	n/a	n/a
11	ZNF143	chr11:86748343-86749150	H1-hESC	embryonic stem cell:	n/a	chr11:86748858-86748876
12	POLR2A	chr11:86748422-86749358	GM18505	blood:	n/a	n/a
13	POLR2A	chr11:86748063-86749588	HepG2	liver:	n/a	n/a
14	TAF1	chr11:86748483-86748888	H1-neurons	neurons:	n/a	n/a
15	MAX	chr11:86748115-86749439	HCT-116	colon:	n/a	n/a
16	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
17	CHD2	chr11:86748421-86749428	Hela-S3	cervix:	n/a	n/a
18	TCF12	chr11:86748126-86749492	A549	lung:	n/a	chr11:86748979-86748986
19	SMC3	chr11:86748324-86749122	K562	blood:	n/a	n/a
20	MYBL2	chr11:86747970-86749317	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:86748478-86749222	GM12891	blood:	n/a	n/a
22	YY1	chr11:86748279-86749474	H1-hESC	embryonic stem cell:	n/a	chr11:86748707-86748718 chr11:86748800-86748809 chr11:86748803-86748812
23	RELA	chr11:86748212-86749870	GM15510	blood:	n/a	chr11:86748412-86748421 chr11:86748412-86748421
24	POLR2A	chr11:86748467-86748504	ProgFib	skin:	n/a	n/a
25	BRCA1	chr11:86748403-86749753	Hela-S3	cervix:	n/a	n/a
26	KAP1	chr11:86748252-86749192	HEK293	kidney:	n/a	n/a
27	TBP	chr11:86748057-86749145	HepG2	liver:	n/a	n/a
28	MAX	chr11:86747941-86749377	A549	lung:	n/a	n/a
29	RAD21	chr11:86748371-86749448	H1-hESC	embryonic stem cell:	n/a	chr11:86748495-86748509
30	EGR1	chr11:86748321-86749427	HCT-116	colon:	n/a	chr11:86748850-86748859 chr11:86748702-86748715 chr11:86748703-86748717 chr11:86748849-86748858 chr11:86748702-86748715 chr11:86748705-86748714 chr11:86748674-86748683
31	POLR2A	chr11:86748114-86749449	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:86748011-86749278	HepG2	liver:	n/a	n/a
33	POLR2A	chr11:86748482-86749251	Hela-S3	cervix:	n/a	n/a
34	BHLHE40	chr11:86748152-86749199	HepG2	liver:	n/a	n/a
35	REST	chr11:86748490-86748807	A549	lung:	n/a	n/a
36	MBD4	chr11:86748481-86749137	HepG2	liver:	n/a	n/a
37	MAX	chr11:86748141-86749313	A549	lung:	n/a	n/a
38	EP300	chr11:86746768-86749151	K562	blood:	n/a	chr11:86748800-86748816 chr11:86748799-86748815
39	BHLHE40	chr11:86748072-86749270	GM12878	blood:	n/a	n/a
40	JUND	chr11:86748087-86749636	K562	blood:	n/a	chr11:86748158-86748166 chr11:86748158-86748165 chr11:86748868-86748877
41	POLR2A	chr11:86748293-86749348	PANC-1	pancreas:	n/a	n/a
42	CHD2	chr11:86748332-86749308	HepG2	liver:	n/a	n/a
43	CTCF	chr11:86748380-86748530	HFF-Myc	foreskin:	n/a	n/a
44	POLR2A	chr11:86748429-86749211	ECC-1	luminal epithelium:	n/a	n/a
45	MYC	chr11:86748469-86748734	H1-hESC	embryonic stem cell:	n/a	n/a
46	USF2	chr11:86748223-86749266	GM12878	blood:	n/a	n/a
47	REST	chr11:86748491-86749286	PFSK-1	brain:	n/a	chr11:86748981-86748994
48	MAX	chr11:86748306-86749210	GM12878	blood:	n/a	n/a
49	POLR2A	chr11:86748380-86749280	ECC-1	luminal epithelium:	n/a	n/a
50	BHLHE40	chr11:86748058-86749260	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:86700649..86702474-chr11:86746917..86748831,2	K562	blood:
2	chr11:86664827..86670422-chr11:86747541..86750601,9	MCF-7	breast:
3	chr11:86711685..86713729-chr11:86746154..86748581,2	K562	blood:

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

Extended variants
information (count: 60 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10466732	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10751146	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10792898	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10792899	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12419551	0.85[EUR][1000 genomes]
rs12790462	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1378879	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1531146	0.85[EUR][1000 genomes]
rs1551503	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1963952	0.83[EUR][1000 genomes]
rs1968740	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1968742	0.85[EUR][1000 genomes]
rs2001411	0.87[EUR][1000 genomes]
rs2034848	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2077594	0.87[EUR][1000 genomes]
rs2445535	0.88[EUR][1000 genomes]
rs2445575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445580	0.83[EUR][1000 genomes]
rs2445586	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2445589	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2512330	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2512332	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2512356	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2512357	0.87[EUR][1000 genomes]
rs2512358	0.85[EUR][1000 genomes]
rs2512365	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2512389	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2512395	0.85[EUR][1000 genomes]
rs2512396	0.83[EUR][1000 genomes]
rs2512397	0.83[EUR][1000 genomes]
rs2512485	0.88[EUR][1000 genomes]
rs2512499	0.88[EUR][1000 genomes]
rs2513210	0.84[EUR][1000 genomes]
rs2513212	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2513214	0.82[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2513215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513216	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2513218	0.88[EUR][1000 genomes]
rs2513224	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2513228	0.88[EUR][1000 genomes]
rs2513233	0.88[EUR][1000 genomes]
rs2513239	0.85[EUR][1000 genomes]
rs2513240	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs3133317	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3133319	0.83[EUR][1000 genomes]
rs3133361	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4245428	0.82[AMR][1000 genomes]
rs4245430	0.83[EUR][1000 genomes]
rs4943971	0.88[EUR][1000 genomes]
rs4944662	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7927570	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7943307	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7943346	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7943831	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7949018	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs991773	0.81[AMR][1000 genomes];0.84[EUR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86747600-86748600	Flanking Active TSS	K562	blood
2	chr11:86748000-86748600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
3	chr11:86748000-86748600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:86748000-86748600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:86748000-86748600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr11:86748000-86748600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:86748000-86748600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:86748000-86748600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr11:86748000-86748600	Flanking Active TSS	Brain Angular Gyrus	brain
10	chr11:86748000-86748600	Flanking Active TSS	Brain Hippocampus Middle	brain
11	chr11:86748000-86748600	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr11:86748000-86748600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
13	chr11:86748000-86748600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
14	chr11:86748000-86748600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
15	chr11:86748000-86748600	Flanking Active TSS	Hela-S3	cervix
16	chr11:86748000-86748600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr11:86748000-86748600	Flanking Active TSS	NHEK	skin
18	chr11:86748000-86748800	Flanking Active TSS	HMEC	breast
19	chr11:86748000-86749600	Active TSS	Fetal Brain Female	brain
20	chr11:86748000-86749800	Active TSS	Fetal Intestine Large	intestine
21	chr11:86748000-86750000	Active TSS	Colonic Mucosa	Colon
22	chr11:86748000-86750200	Active TSS	Fetal Kidney	kidney
23	chr11:86748000-86750400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr11:86748000-86750400	Active TSS	Fetal Intestine Small	intestine
25	chr11:86748000-86750600	Active TSS	Brain Cingulate Gyrus	brain
26	chr11:86748000-86750800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:86748000-86751000	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr11:86748200-86748600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:86748200-86748600	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr11:86748200-86748600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:86748200-86748600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:86748200-86748600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr11:86748200-86748600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr11:86748200-86748600	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr11:86748200-86748600	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr11:86748200-86748600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
37	chr11:86748200-86748600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:86748200-86748600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr11:86748200-86748600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr11:86748200-86748600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
41	chr11:86748200-86748600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr11:86748200-86748600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr11:86748200-86748600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr11:86748200-86748600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
45	chr11:86748200-86748600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr11:86748200-86748600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:86748200-86748600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
48	chr11:86748200-86748600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr11:86748200-86748600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:86748200-86748600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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