Variant report

Variant	rs35166119
Chromosome Location	chr13:111065472-111065473
allele	A/C
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	BRCA1	chr13:111065462-111065472	GM12878	blood:	n/a	n/a
2	JUND	chr13:111064168-111065648	SK-N-SH	brain:	n/a	chr13:111064671-111064678 chr13:111064993-111065004 chr13:111064997-111065005 chr13:111064670-111064678 chr13:111065405-111065414 chr13:111064996-111065007 chr13:111064669-111064678 chr13:111064670-111064679 chr13:111064668-111064680
3	RAD21	chr13:111063415-111065761	SK-N-SH	brain:	n/a	chr13:111063778-111063791 chr13:111063771-111063785 chr13:111063770-111063784
4	SMC3	chr13:111063802-111065550	SK-N-SH	brain:	n/a	chr13:111064765-111064779
5	GATA3	chr13:111064194-111065474	SK-N-SH	brain:	n/a	n/a
6	CHD1	chr13:111063393-111066220	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111064820..111066912-chr13:111364451..111367008,2	K562	blood:
2	chr13:111063956..111066256-chr13:111066546..111068934,2	K562	blood:

Variant related genes	Relation type
ENSG00000238629	TF binding region
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000238629	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12866564	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12867664	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12868152	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12868452	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35370478	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs61963221	0.89[ASN][1000 genomes]
rs6492269	0.89[ASN][1000 genomes]
rs9521753	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1038914	chr13:110860219-111190104	Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1046423	chr13:110936104-111286607	Weak transcription Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv2751128	chr13:111040798-111132490	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:111050200-111066000	Enhancers	NHDF-Ad	bronchial
2	chr13:111050200-111075200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:111056200-111066000	Enhancers	Lung	lung
4	chr13:111057800-111070400	Enhancers	Right Atrium	heart
5	chr13:111058000-111066000	Enhancers	HUVEC	blood vessel
6	chr13:111059400-111067000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr13:111060200-111065600	Weak transcription	Esophagus	oesophagus
8	chr13:111060200-111067000	Enhancers	Right Ventricle	heart
9	chr13:111060200-111082800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:111061000-111065600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr13:111061000-111077000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr13:111061200-111065800	Enhancers	Colon Smooth Muscle	Colon
13	chr13:111061400-111065600	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr13:111061400-111065600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:111061400-111065800	Enhancers	Rectal Smooth Muscle	rectum
16	chr13:111061600-111065800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr13:111061600-111069200	Weak transcription	Fetal Brain Male	brain
18	chr13:111061800-111066000	Enhancers	HSMM	muscle
19	chr13:111061800-111066200	Enhancers	NHLF	lung
20	chr13:111061800-111066800	Enhancers	Placenta	Placenta
21	chr13:111062000-111065800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:111062000-111065800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr13:111062000-111069000	Enhancers	Left Ventricle	heart
24	chr13:111062400-111066000	Enhancers	Ovary	ovary
25	chr13:111062600-111065600	Enhancers	Fetal Muscle Leg	muscle
26	chr13:111062800-111068400	Weak transcription	Gastric	stomach
27	chr13:111063200-111065600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr13:111063200-111065600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr13:111063600-111065800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:111063800-111065600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:111063800-111080800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr13:111064200-111065600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr13:111064200-111078000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr13:111064400-111065600	Weak transcription	Aorta	Aorta
35	chr13:111064400-111065600	Enhancers	Osteobl	bone
36	chr13:111064400-111065800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:111064400-111066000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr13:111064400-111068200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr13:111064400-111069800	Weak transcription	Small Intestine	intestine
40	chr13:111064600-111066000	Enhancers	Adipose Nuclei	Adipose
41	chr13:111064600-111067400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr13:111064600-111068000	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr13:111064800-111065600	Enhancers	Brain Angular Gyrus	brain
44	chr13:111064800-111065800	Genic enhancers	NH-A	brain
45	chr13:111064800-111069800	Weak transcription	GM12878-XiMat	blood
46	chr13:111064800-111071800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr13:111065000-111065600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr13:111065000-111065600	Enhancers	Fetal Lung	lung
49	chr13:111065000-111065800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr13:111065000-111066000	Enhancers	HSMMtube	muscle

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