Variant report

Variant	rs9888261
Chromosome Location	chr11:36314135-36314136
allele	A/T
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	CTCF	chr11:36314020-36314170	HFF-Myc	foreskin:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
2	CTCF	chr11:36314040-36314190	GM12870	blood:	n/a	n/a
3	CTCF	chr11:36314116-36314171	GM12891	blood:	n/a	n/a
4	RAD21	chr11:36313784-36314213	HepG2	liver:	n/a	chr11:36314022-36314041
5	ZNF143	chr11:36313805-36314260	H1-hESC	embryonic stem cell:	n/a	n/a
6	CTCF	chr11:36313770-36314165	MCF-7	breast:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
7	CTCF	chr11:36313863-36314138	K562	blood:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
8	CTCF	chr11:36314000-36314150	AG04449	skin:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
9	CTCF	chr11:36314020-36314170	HCT-116	colon:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
10	ELK1	chr11:36313903-36314157	GM12878	blood:	n/a	n/a
11	RAD21	chr11:36313726-36314337	HCT-116	colon:	n/a	chr11:36314022-36314041
12	CEBPB	chr11:36313797-36314192	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr11:36314020-36314170	NHEK	skin:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
14	ATF3	chr11:36313844-36314179	K562	blood:	n/a	chr11:36314044-36314058
15	RAD21	chr11:36313914-36314196	HepG2	liver:	n/a	chr11:36314022-36314041
16	CTCF	chr11:36313741-36314256	MCF-7	breast:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
17	CTCF	chr11:36314021-36314184	GM12892	blood:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
18	STAT3	chr11:36313818-36314178	GM12878	blood:	n/a	n/a
19	CTCF	chr11:36313825-36314199	GM12878	blood:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
20	BCLAF1	chr11:36313692-36314147	GM12878	blood:	n/a	n/a
21	CTCF	chr11:36313875-36314249	H1-hESC	embryonic stem cell:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
22	CEBPB	chr11:36313810-36314293	Hela-S3	cervix:	n/a	n/a
23	RCOR1	chr11:36313844-36314166	K562	blood:	n/a	n/a
24	ZNF143	chr11:36313810-36314173	K562	blood:	n/a	n/a
25	CTCF	chr11:36313873-36314170	Spleen_OC	spleen:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
26	RAD21	chr11:36313870-36314224	A549	lung:	n/a	chr11:36314022-36314041
27	RAD21	chr11:36313809-36314319	H1-hESC	embryonic stem cell:	n/a	chr11:36314022-36314041
28	BATF	chr11:36313878-36314246	GM12878	blood:	n/a	n/a
29	RAD21	chr11:36313721-36314269	HCT-116	colon:	n/a	chr11:36314022-36314041
30	CTCF	chr11:36313880-36314146	Lung_OC	lung:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
31	CTCF	chr11:36313596-36314468	A549	lung:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
32	RAD21	chr11:36313838-36314236	GM12878	blood:	n/a	chr11:36314022-36314041
33	CTCF	chr11:36313626-36314516	SK-N-SH	brain:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
34	RAD21	chr11:36313722-36314330	ECC-1	luminal epithelium:	n/a	chr11:36314022-36314041
35	CTCF	chr11:36314020-36314170	BJ	skin:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
36	RCOR1	chr11:36313443-36314451	IMR90	lung:	n/a	n/a
37	RAD21	chr11:36313892-36314181	GM12878	blood:	n/a	chr11:36314022-36314041
38	RAD21	chr11:36313780-36314344	ECC-1	luminal epithelium:	n/a	chr11:36314022-36314041
39	CTCF	chr11:36313863-36314181	K562	blood:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
40	CTCF	chr11:36313796-36314245	GM12878	blood:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
41	CTCF	chr11:36313918-36314156	LNCaP	prostate:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
42	SPI1	chr11:36313788-36314185	GM12891	blood:	n/a	chr11:36314057-36314070
43	CTCF	chr11:36314022-36314159	GM19240	blood:	n/a	chr11:36314022-36314038 chr11:36314023-36314044
44	CTCF	chr11:36314000-36314150	GM12869	blood:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
45	RAD21	chr11:36313791-36314263	MCF-7	breast:	n/a	chr11:36314022-36314041
46	CTCF	chr11:36314020-36314176	GM19238	blood:	n/a	chr11:36314022-36314038 chr11:36314021-36314039 chr11:36314023-36314044
47	USF2	chr11:36313813-36314136	Hela-S3	cervix:	n/a	n/a
48	RAD21	chr11:36313903-36314198	K562	blood:	n/a	chr11:36314022-36314041
49	RAD21	chr11:36313742-36314266	SK-N-SH_RA	brain:	n/a	chr11:36314022-36314041
50	RCOR1	chr11:36313718-36314161	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:36313682..36314535-chr11:36499976..36500929,2	MCF-7	breast:
2	chr11:36313546..36314693-chr11:36499934..36500819,3	K562	blood:
3	chr11:36313572..36314458-chr11:36768376..36769407,3	K562	blood:
4	chr11:36313496..36314248-chr11:36499998..36500750,3	MCF-7	breast:

Variant related genes	Relation type
PRR5L	TF binding region
COMMD9	TF binding region

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11033524	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11033527	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11603166	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12361221	0.82[EUR][1000 genomes]
rs1562327	0.85[EUR][1000 genomes]
rs1900336	0.95[EUR][1000 genomes]
rs2289986	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2289987	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2305169	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4418777	0.96[CEU][hapmap];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61878687	0.92[EUR][1000 genomes]
rs6484831	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs7107433	0.96[CEU][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7109505	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs7939948	0.81[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7951298	0.96[CEU][hapmap];0.94[EUR][1000 genomes]
rs9667667	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9787880	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9787894	0.96[CEU][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9888212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888213	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36311400-36317400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr11:36311400-36322600	Weak transcription	Spleen	Spleen
3	chr11:36311400-36331400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:36311600-36314200	Weak transcription	Fetal Intestine Small	intestine
5	chr11:36311600-36317000	Weak transcription	Hela-S3	cervix
6	chr11:36311600-36317400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr11:36311600-36317600	Weak transcription	Fetal Intestine Large	intestine
8	chr11:36311600-36318400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:36311600-36318600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr11:36311600-36325800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr11:36311800-36317200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:36311800-36321800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr11:36312000-36316600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr11:36312200-36317800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr11:36312800-36315800	Weak transcription	Brain Hippocampus Middle	brain
16	chr11:36313800-36314200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:36313800-36314400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:36313800-36314400	Enhancers	Brain Cingulate Gyrus	brain
19	chr11:36313800-36314400	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr11:36314000-36314200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr11:36314000-36314200	Enhancers	Fetal Muscle Leg	muscle
22	chr11:36314000-36314400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr11:36314000-36314400	Enhancers	Primary B cells from peripheral blood	blood
24	chr11:36314000-36314400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:36314000-36314400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr11:36314000-36314400	Enhancers	Brain Angular Gyrus	brain
27	chr11:36314000-36314400	Enhancers	Brain Anterior Caudate	brain
28	chr11:36314000-36314400	Enhancers	Brain Substantia Nigra	brain
29	chr11:36314000-36314400	Enhancers	GM12878-XiMat	blood
30	chr11:36314000-36314600	Enhancers	Adipose Nuclei	Adipose

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