Variant report

Variant	rs61505319
Chromosome Location	chr11:8834901-8834902
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	CTCF	chr11:8834840-8834990	Hela-S3	cervix:	n/a	n/a
2	CTCF	chr11:8834900-8835050	GM12868	blood:	n/a	n/a
3	RAD21	chr11:8834873-8835711	HCT-116	colon:	n/a	chr11:8835207-8835217 chr11:8835305-8835319 chr11:8835301-8835320
4	RAD21	chr11:8834871-8836175	SK-N-SH	brain:	n/a	chr11:8835207-8835217 chr11:8835305-8835319 chr11:8835301-8835320
5	CTCF	chr11:8834780-8835878	A549	lung:	n/a	chr11:8835303-8835321 chr11:8835298-8835319 chr11:8835304-8835320 chr11:8835309-8835318 chr11:8835305-8835318
6	CTCF	chr11:8834814-8835720	HCT-116	colon:	n/a	chr11:8835303-8835321 chr11:8835298-8835319 chr11:8835304-8835320 chr11:8835309-8835318 chr11:8835305-8835318
7	CTCF	chr11:8834800-8834950	GM12864	blood:	n/a	n/a
8	SMC3	chr11:8834610-8835805	SK-N-SH	brain:	n/a	chr11:8835305-8835319
9	CTCF	chr11:8834840-8834990	NHLF	lung:	n/a	n/a
10	CTCF	chr11:8834716-8835688	SK-N-SH	brain:	n/a	chr11:8835303-8835321 chr11:8835298-8835319 chr11:8835304-8835320 chr11:8835309-8835318 chr11:8835305-8835318

No.	Distal block	Cell Line	Cell type
1	chr11:8711214..8713494-chr11:8834662..8837467,3	K562	blood:
2	chr11:8830703..8833043-chr11:8833134..8835525,2	MCF-7	breast:
3	chr11:8702847..8705692-chr11:8833365..8835740,2	MCF-7	breast:
4	chr11:8285056..8285937-chr11:8834836..8835396,2	K562	blood:
5	chr11:8707539..8711325-chr11:8831652..8835543,5	MCF-7	breast:
6	chr11:8831391..8833809-chr11:8833845..8836255,2	K562	blood:
7	chr11:8717868..8722426-chr11:8832973..8835335,4	K562	blood:

Variant related genes	Relation type
ST5	TF binding region
ENSG00000166441	Chromatin interaction
ENSG00000166407	Chromatin interaction
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs56980703	1.00[AMR][1000 genomes]
rs57375414	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58735631	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59314648	0.86[AFR][1000 genomes]
rs59619952	1.00[AMR][1000 genomes]
rs60631733	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7129159	1.00[AMR][1000 genomes]
rs73408033	1.00[AMR][1000 genomes]
rs73408102	1.00[AMR][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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527073	chr11:8829168-8848463	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8832200-8835000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:8832400-8835000	Weak transcription	HUVEC	blood vessel
3	chr11:8832400-8836800	Enhancers	Placenta Amnion	Placenta Amnion
4	chr11:8832600-8835000	Weak transcription	Primary hematopoietic stem cells	blood
5	chr11:8832600-8835200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:8832600-8840800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr11:8832800-8835000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr11:8832800-8835400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:8832800-8837400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:8833000-8835000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:8833000-8835000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:8833000-8835000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:8833000-8835400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr11:8833000-8835400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:8833000-8835400	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:8833000-8835400	Weak transcription	Left Ventricle	heart
17	chr11:8833000-8835400	Weak transcription	Psoas Muscle	Psoas
18	chr11:8833000-8835400	Weak transcription	Right Atrium	heart
19	chr11:8833000-8835400	Weak transcription	Right Ventricle	heart
20	chr11:8833000-8835400	Weak transcription	Small Intestine	intestine
21	chr11:8833000-8835400	Weak transcription	Spleen	Spleen
22	chr11:8833000-8836200	Enhancers	Stomach Mucosa	stomach
23	chr11:8833000-8836400	Enhancers	Colon Smooth Muscle	Colon
24	chr11:8833000-8837200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:8833000-8837200	Enhancers	NHDF-Ad	bronchial
26	chr11:8833000-8837400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:8833000-8837600	Enhancers	NHLF	lung
28	chr11:8833000-8839200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:8833200-8835000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr11:8833200-8835000	Weak transcription	Fetal Thymus	thymus
31	chr11:8833200-8835000	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr11:8833200-8835000	Weak transcription	HSMMtube	muscle
33	chr11:8833200-8835000	Weak transcription	NH-A	brain
34	chr11:8833200-8835200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr11:8833200-8835200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:8833200-8835200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr11:8833200-8835200	Weak transcription	Fetal Heart	heart
38	chr11:8833200-8835200	Weak transcription	Lung	lung
39	chr11:8833200-8835200	Weak transcription	Pancreas	Pancrea
40	chr11:8833200-8835400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr11:8833200-8835400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:8833200-8835400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:8833200-8835400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr11:8833200-8835400	Weak transcription	Colonic Mucosa	Colon
45	chr11:8833200-8835400	Weak transcription	Fetal Kidney	kidney
46	chr11:8833200-8835400	Weak transcription	Fetal Lung	lung
47	chr11:8833200-8835400	Weak transcription	Ovary	ovary
48	chr11:8833200-8835600	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr11:8833200-8835600	Enhancers	Stomach Smooth Muscle	stomach
50	chr11:8833200-8835800	Enhancers	Rectal Smooth Muscle	rectum

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