Variant report

Variant	rs1220393
Chromosome Location	chr1:9906703-9906704
allele	G/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	RAD21	chr1:9906703-9907160	ECC-1	luminal epithelium:	n/a	n/a
2	EP300	chr1:9906515-9907278	ECC-1	luminal epithelium:	n/a	chr1:9906847-9906863
3	TCF12	chr1:9906683-9907308	ECC-1	luminal epithelium:	n/a	n/a
4	ZBTB7A	chr1:9906488-9907321	ECC-1	luminal epithelium:	n/a	n/a
5	CTCF	chr1:9906682-9907023	K562	blood:	n/a	chr1:9906729-9906737
6	NFIC	chr1:9906637-9907399	ECC-1	luminal epithelium:	n/a	n/a
7	CTCF	chr1:9906675-9907058	K562	blood:	n/a	chr1:9906729-9906737
8	ZBTB7A	chr1:9906412-9907218	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:9904687..9906810-chr1:9917886..9920073,2	K562	blood:
2	chr1:9882811..9887089-chr1:9904290..9906787,4	MCF-7	breast:
3	chr1:9882501..9887964-chr1:9906388..9911794,10	MCF-7	breast:
4	chr1:9897834..9901642-chr1:9903585..9906973,5	K562	blood:

Variant related genes	Relation type
ENSG00000223989	TF binding region
ENSG00000171603	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs1220381	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1220382	0.83[EUR][1000 genomes]
rs1220384	0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1220392	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1220394	0.94[EUR][1000 genomes]
rs1220395	0.94[EUR][1000 genomes]
rs1220396	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1220405	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1220406	0.92[EUR][1000 genomes]
rs1220411	0.80[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1220412	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs1220413	0.88[EUR][1000 genomes]
rs1220418	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1372106	0.83[EUR][1000 genomes]
rs1470160	0.88[EUR][1000 genomes]
rs1660735	0.86[EUR][1000 genomes]
rs2083577	0.81[EUR][1000 genomes]
rs2379108	0.83[EUR][1000 genomes]
rs2486084	0.80[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs2582980	0.83[EUR][1000 genomes]
rs2582981	0.82[EUR][1000 genomes]
rs3120822	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7225	0.94[EUR][1000 genomes]
rs935073	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs935074	0.88[EUR][1000 genomes]
rs935075	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs946275	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv871146	chr1:9897001-9951288	Genic enhancers Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9896000-9919200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:9896400-9908800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:9896600-9913400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:9901800-9907600	Enhancers	Fetal Muscle Leg	muscle
5	chr1:9901800-9908400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:9902000-9908600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:9902200-9908400	Weak transcription	Spleen	Spleen
8	chr1:9902200-9909800	Enhancers	Fetal Thymus	thymus
9	chr1:9902600-9911800	Weak transcription	HSMM	muscle
10	chr1:9902800-9907400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:9902800-9913600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:9903000-9908200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:9903200-9912200	Weak transcription	HSMMtube	muscle
14	chr1:9904000-9906800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr1:9904000-9906800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr1:9904000-9909400	Weak transcription	Gastric	stomach
17	chr1:9904000-9909800	Weak transcription	HepG2	liver
18	chr1:9904000-9913000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:9904000-9929800	Weak transcription	Aorta	Aorta
20	chr1:9904200-9908000	Weak transcription	Fetal Intestine Large	intestine
21	chr1:9904200-9910400	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr1:9904200-9912400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:9904200-9927400	Weak transcription	Colonic Mucosa	Colon
24	chr1:9904200-9927800	Weak transcription	Colon Smooth Muscle	Colon
25	chr1:9904400-9906800	Weak transcription	Lung	lung
26	chr1:9904400-9906800	Weak transcription	Right Ventricle	heart
27	chr1:9904400-9907800	Weak transcription	Fetal Intestine Small	intestine
28	chr1:9904400-9908000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:9904400-9909200	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:9904400-9909400	Weak transcription	Brain Germinal Matrix	brain
31	chr1:9904400-9911800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr1:9904400-9913400	Weak transcription	Fetal Lung	lung
33	chr1:9904400-9922600	Weak transcription	Pancreas	Pancrea
34	chr1:9904400-9923400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr1:9904400-9927800	Weak transcription	Stomach Mucosa	stomach
36	chr1:9904400-9930000	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:9904600-9922600	Weak transcription	Ovary	ovary
38	chr1:9904600-9935000	Weak transcription	Osteobl	bone
39	chr1:9904800-9907200	Weak transcription	Fetal Heart	heart
40	chr1:9904800-9908800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:9904800-9910800	Weak transcription	Fetal Brain Female	brain
42	chr1:9904800-9946000	Weak transcription	Fetal Kidney	kidney
43	chr1:9905000-9908000	Weak transcription	Right Atrium	heart
44	chr1:9905000-9908200	Weak transcription	Fetal Stomach	stomach
45	chr1:9905000-9909600	Weak transcription	Fetal Brain Male	brain
46	chr1:9905000-9911800	Weak transcription	HMEC	breast
47	chr1:9905200-9907000	Weak transcription	Brain Angular Gyrus	brain
48	chr1:9905200-9908400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr1:9905200-9915400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:9905400-9906800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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