Variant report

Variant	rs2512328
Chromosome Location	chr11:86808763-86808764
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:257)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:257 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:86808680-86808830	GM12870	blood:	n/a	n/a
2	CTCF	chr11:86808680-86808830	GM12871	blood:	n/a	n/a
3	CTCF	chr11:86808636-86808818	SK-N-SH_RA	brain:	n/a	n/a
4	GATA3	chr11:86808498-86809103	SH-SY5Y	brain:	n/a	n/a
5	CTCF	chr11:86808640-86808790	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr11:86808640-86808790	NHEK	skin:	n/a	n/a
7	POLR2A	chr11:86808719-86808801	K562	blood:	n/a	n/a
8	SPI1	chr11:86808574-86808792	K562	blood:	n/a	n/a
9	RAD21	chr11:86808520-86808979	ECC-1	luminal epithelium:	n/a	n/a
10	CTCF	chr11:86808680-86808830	WI-38	lung:	n/a	n/a
11	RAD21	chr11:86808539-86808913	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr11:86808660-86808810	HCT-116	colon:	n/a	n/a
13	CTCF	chr11:86808624-86808874	MCF-7	breast:	n/a	n/a
14	ATF1	chr11:86808580-86808925	K562	blood:	n/a	n/a
15	CTCF	chr11:86808640-86808790	BJ	skin:	n/a	n/a
16	SPI1	chr11:86808653-86808800	GM12878	blood:	n/a	n/a
17	CTCF	chr11:86808640-86808790	GM12866	blood:	n/a	n/a
18	TBP	chr11:86808697-86808901	K562	blood:	n/a	n/a
19	RAD21	chr11:86808555-86808991	A549	lung:	n/a	n/a
20	MAX	chr11:86808576-86808887	K562	blood:	n/a	n/a
21	CTCF	chr11:86808625-86808838	LNCaP	prostate:	n/a	n/a
22	CTCF	chr11:86808640-86808790	A549	lung:	n/a	n/a
23	CTCF	chr11:86808660-86808810	GM12878	blood:	n/a	n/a
24	CTCF	chr11:86808660-86808810	HepG2	liver:	n/a	n/a
25	RAD21	chr11:86808492-86808939	H1-hESC	embryonic stem cell:	n/a	n/a
26	CTCF	chr11:86808635-86808841	LNCaP	prostate:	n/a	n/a
27	E2F4	chr11:86808625-86809356	MCF10A-Er-Src	breast:	n/a	n/a
28	CTCF	chr11:86808612-86808875	Pancreas_OC	pancreas:	n/a	n/a
29	MYC	chr11:86808679-86808862	HepG2	liver:	n/a	n/a
30	MAFK	chr11:86808641-86809276	HepG2	liver:	n/a	n/a
31	RAD21	chr11:86808530-86808943	HepG2	liver:	n/a	n/a
32	CTCF	chr11:86808660-86808810	HMEC	breast:	n/a	n/a
33	CTCF	chr11:86808660-86808810	NHEK	skin:	n/a	n/a
34	MAX	chr11:86808577-86808850	K562	blood:	n/a	n/a
35	CTCF	chr11:86808670-86808816	MCF-7	breast:	n/a	n/a
36	KAP1	chr11:86808680-86809032	U2OS	brain:	n/a	n/a
37	CTCF	chr11:86808680-86808830	K562	blood:	n/a	n/a
38	CTCF	chr11:86808680-86808830	WERI-Rb-1	eye:	n/a	n/a
39	RAD21	chr11:86808617-86808812	K562	blood:	n/a	n/a
40	ZNF384	chr11:86808651-86808859	K562	blood:	n/a	n/a
41	CTCF	chr11:86808660-86808810	AoAF	blood vessel:	n/a	n/a
42	CTCF	chr11:86808640-86808790	HEK293	kidney:	n/a	n/a
43	USF2	chr11:86808525-86808886	GM12878	blood:	n/a	n/a
44	CTCF	chr11:86808661-86808835	GM13976	blood:	n/a	n/a
45	RUNX3	chr11:86808451-86808843	GM12878	blood:	n/a	n/a
46	CTCF	chr11:86808584-86808899	K562	blood:	n/a	n/a
47	EP300	chr11:86808678-86808895	K562	blood:	n/a	n/a
48	CTCF	chr11:86808636-86808844	GM13977	blood:	n/a	n/a
49	CTCF	chr11:86808640-86808790	HA-sp	spinal cord:	n/a	n/a
50	CTCF	chr11:86808680-86808830	HBMEC	blood vessel:	n/a	n/a

No data

(count:1 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:86706337..86706967-chr11:86808249..86808967,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000254843	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs2001411	0.94[JPT][hapmap]
rs2124581	0.82[CHB][hapmap]
rs2244970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2445541	0.83[CHB][hapmap]
rs2445542	0.82[CHB][hapmap]
rs2445546	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2445551	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2445557	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2445559	0.83[CHB][hapmap]
rs2445566	0.82[CHB][hapmap]
rs2445567	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2445569	0.83[CHB][hapmap]
rs2445576	0.81[CHB][hapmap];0.82[JPT][hapmap]
rs2445578	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2445579	0.91[CEU][hapmap];0.87[CHB][hapmap];0.89[JPT][hapmap]
rs2512325	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs2512327	0.82[CHB][hapmap]
rs2512337	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2512348	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2512352	0.82[CHB][hapmap]
rs2512353	0.82[CHB][hapmap]
rs2512380	0.83[CHB][hapmap]
rs2512382	0.82[CHB][hapmap]
rs2512383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512384	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2512385	0.83[CHB][hapmap]
rs2512386	0.83[CHB][hapmap]
rs2512387	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2512390	0.82[CHB][hapmap]
rs2512488	0.82[CHB][hapmap]
rs2512489	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2512501	0.83[CHB][hapmap]
rs2513207	0.82[CHB][hapmap]
rs2513222	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2513226	0.83[CHB][hapmap]
rs2513228	0.89[JPT][hapmap]
rs4943971	0.89[JPT][hapmap]
rs56686948	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs989689	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 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
5	nsv898058	chr11:86754948-86889284	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv898059	chr11:86754948-86949369	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1043562	chr11:86755535-87547185	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv541120	chr11:86755535-87547185	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
9	nsv1046288	chr11:86757573-87158571	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv1844274	chr11:86776992-86872908	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv468776	chr11:86788716-86826422	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv555706	chr11:86788716-86826422	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv1045057	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
14	nsv541121	chr11:86794670-87033779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
15	nsv468777	chr11:86794856-86985581	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv555707	chr11:86794856-86985581	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:86776600-86815600	Weak transcription	HSMMtube	muscle
2	chr11:86783000-86814000	Weak transcription	Hela-S3	cervix
3	chr11:86787400-86819600	Weak transcription	NH-A	brain
4	chr11:86787600-86825200	Weak transcription	Brain Substantia Nigra	brain
5	chr11:86787800-86817400	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:86787800-86819400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:86788200-86817800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:86788200-86824600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr11:86788200-86830400	Weak transcription	Right Ventricle	heart
10	chr11:86788600-86836400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:86792800-86808800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr11:86798000-86820000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr11:86798200-86817800	Weak transcription	Fetal Thymus	thymus
14	chr11:86798400-86821600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr11:86799400-86817800	Weak transcription	Psoas Muscle	Psoas
16	chr11:86799600-86821000	Weak transcription	Primary B cells from cord blood	blood
17	chr11:86800400-86808800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr11:86800400-86808800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr11:86801000-86816200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:86801600-86817800	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr11:86803400-86810400	Weak transcription	HSMM	muscle
22	chr11:86803600-86817800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr11:86803600-86817800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr11:86803800-86810800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:86803800-86812400	Weak transcription	NHDF-Ad	bronchial
26	chr11:86804200-86809000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:86804400-86808800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:86804400-86808800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:86804400-86812000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:86804400-86814600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:86804400-86824800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:86804600-86808800	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr11:86804600-86809000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:86804600-86813600	Weak transcription	GM12878-XiMat	blood
35	chr11:86804600-86817400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr11:86804600-86824600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr11:86804600-86839400	Weak transcription	Fetal Kidney	kidney
38	chr11:86804800-86808800	Weak transcription	Fetal Intestine Small	intestine
39	chr11:86804800-86810800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:86804800-86811800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr11:86804800-86817800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr11:86805000-86814600	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:86805000-86818000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr11:86805800-86809000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:86806400-86813000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr11:86806400-86816200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr11:86806600-86816200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr11:86806800-86815800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr11:86806800-86817800	Weak transcription	Aorta	Aorta
50	chr11:86806800-86829600	Weak transcription	Primary T cells from cord blood	blood

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