Variant report

Variant	rs61601671
Chromosome Location	chr11:66682671-66682672
allele	C/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	POLR2A	chr11:66682170-66683128	PBDE	blood:	n/a	n/a
2	NFYB	chr11:66682402-66682761	K562	blood:	n/a	n/a
3	YY1	chr11:66682564-66682754	K562	blood:	n/a	n/a
4	NFYB	chr11:66682539-66682721	GM12878	blood:	n/a	n/a
5	NFYA	chr11:66682409-66682722	K562	blood:	n/a	n/a
6	POLR2A	chr11:66682582-66683125	H1-neurons	neurons:	n/a	n/a
7	TAL1	chr11:66682664-66682894	K562	blood:	n/a	chr11:66682751-66682769
8	CTCF	chr11:66682660-66682810	HCPEpiC	choroid plexus:	n/a	n/a
9	GATA1	chr11:66682387-66683276	PBDE	blood:	n/a	chr11:66682760-66682769 chr11:66682751-66682768

No.	Distal block	Cell Line	Cell type
1	chr11:66681518..66683376-chr11:66724047..66725843,2	MCF-7	breast:
2	chr11:66671241..66674201-chr11:66681070..66683415,2	MCF-7	breast:
3	chr11:66681279..66683379-chr11:66773708..66775919,2	MCF-7	breast:
4	chr11:66644476..66647274-chr11:66681584..66683637,2	MCF-7	breast:

Variant related genes	Relation type
RNU7-23P	TF binding region
ENSG00000173599	Chromatin interaction
ENSG00000173227	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17498954	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs735498	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897794	chr11:66579572-66744119	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv555226	chr11:66579572-66845362	Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
3	nsv428574	chr11:66619002-66804133	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv832194	chr11:66634462-66805980	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
5	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66672200-66684000	Enhancers	Brain Inferior Temporal Lobe	brain
2	chr11:66672600-66683000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr11:66674000-66687000	Weak transcription	HSMMtube	muscle
4	chr11:66674400-66689600	Weak transcription	NHLF	lung
5	chr11:66674600-66684800	Weak transcription	Fetal Stomach	stomach
6	chr11:66674600-66696400	Weak transcription	NHEK	skin
7	chr11:66675000-66696200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr11:66675600-66683000	Weak transcription	A549	lung
9	chr11:66675600-66687000	Weak transcription	Osteobl	bone
10	chr11:66675600-66699800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr11:66676200-66688600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr11:66676800-66683800	Weak transcription	Fetal Brain Female	brain
13	chr11:66676800-66696400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:66677000-66683000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:66677200-66683400	Weak transcription	Liver	Liver
16	chr11:66677200-66692000	Weak transcription	Pancreas	Pancrea
17	chr11:66678000-66682800	Enhancers	Brain Hippocampus Middle	brain
18	chr11:66678000-66688600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr11:66678400-66683600	Weak transcription	Hela-S3	cervix
20	chr11:66678800-66682800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:66680200-66686800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:66680400-66682800	Weak transcription	Adipose Nuclei	Adipose
23	chr11:66680400-66682800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr11:66680600-66682800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:66680600-66683000	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:66680600-66683600	Enhancers	HepG2	liver
27	chr11:66680600-66684000	Enhancers	Brain Anterior Caudate	brain
28	chr11:66680600-66684200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr11:66680600-66684200	Enhancers	Brain Substantia Nigra	brain
30	chr11:66680600-66684600	Weak transcription	Right Ventricle	heart
31	chr11:66680600-66689000	Weak transcription	Brain Germinal Matrix	brain
32	chr11:66680800-66682800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr11:66680800-66683000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:66680800-66683000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:66680800-66687000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:66681000-66682800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:66681400-66682800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr11:66681400-66682800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr11:66681400-66682800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:66682000-66684000	Enhancers	Stomach Mucosa	stomach
41	chr11:66682000-66684000	Enhancers	K562	blood
42	chr11:66682200-66683200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr11:66682200-66683800	Strong transcription	Fetal Intestine Small	intestine
44	chr11:66682200-66684200	Enhancers	Brain Angular Gyrus	brain
45	chr11:66682400-66682800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr11:66682400-66683400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr11:66682400-66683800	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr11:66682400-66683800	Enhancers	Gastric	stomach
49	chr11:66682400-66685400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr11:66682600-66683000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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