Variant report

Variant	rs4769777
Chromosome Location	chr13:30415200-30415201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30414278..30417559-chr13:30423069..30425308,6	MCF-7	breast:
2	chr13:30410070..30411618-chr13:30413618..30415237,2	MCF-7	breast:
3	chr13:30413488..30415848-chr13:30648656..30650250,2	MCF-7	breast:
4	chr13:30414305..30417482-chr13:30498003..30500774,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122042	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11618361	1.00[AFR][1000 genomes]
rs17502901	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3783244	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs720083	1.00[AFR][1000 genomes]
rs9314979	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9578138	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9579483	0.93[AFR][1000 genomes]
rs9579486	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][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	esv3520592	chr13:30243601-30648554	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3520593	chr13:30243601-30648554	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30376600-30420600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr13:30392000-30415600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr13:30404400-30420000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr13:30404600-30415800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr13:30404800-30415600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr13:30404800-30418200	Weak transcription	HSMM	muscle
7	chr13:30405200-30415800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:30405400-30419200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:30406000-30419600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr13:30406200-30417800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr13:30407200-30415800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr13:30407400-30415800	Weak transcription	Gastric	stomach
13	chr13:30407400-30419200	Weak transcription	Fetal Intestine Small	intestine
14	chr13:30407400-30419400	Weak transcription	Brain Angular Gyrus	brain
15	chr13:30407400-30419800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr13:30407400-30419800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr13:30407400-30420800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr13:30407600-30415800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr13:30407600-30418400	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr13:30407800-30418600	Weak transcription	Brain Substantia Nigra	brain
21	chr13:30408200-30415800	Weak transcription	Pancreas	Pancrea
22	chr13:30408200-30420800	Weak transcription	Right Atrium	heart
23	chr13:30408400-30415800	Weak transcription	Aorta	Aorta
24	chr13:30408400-30415800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr13:30409800-30421600	Weak transcription	Left Ventricle	heart
26	chr13:30410000-30415800	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr13:30410000-30420000	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr13:30410200-30415600	Weak transcription	GM12878-XiMat	blood
29	chr13:30410800-30415800	Weak transcription	Primary B cells from peripheral blood	blood
30	chr13:30411000-30415800	Weak transcription	Thymus	Thymus
31	chr13:30411000-30420800	Weak transcription	Ovary	ovary
32	chr13:30411200-30415800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr13:30411200-30415800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr13:30411200-30418200	Weak transcription	Osteobl	bone
35	chr13:30411200-30418600	Weak transcription	Adipose Nuclei	Adipose
36	chr13:30411800-30415800	Weak transcription	Stomach Mucosa	stomach
37	chr13:30412000-30416000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr13:30412000-30416000	Weak transcription	Psoas Muscle	Psoas
39	chr13:30412000-30421000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr13:30412600-30416200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:30413200-30415600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr13:30413200-30420600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr13:30413400-30415600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr13:30413400-30415600	Weak transcription	Primary T cells from cord blood	blood
45	chr13:30413800-30420400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr13:30414000-30416600	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr13:30414200-30415200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr13:30414200-30415600	Enhancers	Hela-S3	cervix
49	chr13:30414400-30415200	Enhancers	A549	lung
50	chr13:30414400-30416000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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