Variant report

Variant	rs73286304
Chromosome Location	chr7:12267415-12267416
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:12257500..12259043-chr7:12265759..12268706,2	K562	blood:
2	chr7:12249384..12252476-chr7:12265533..12268925,3	K562	blood:
3	chr7:12248906..12251761-chr7:12266386..12268041,2	K562	blood:
4	chr7:12260062..12264264-chr7:12265480..12268188,5	K562	blood:

Variant related genes	Relation type
ENSG00000106460	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12534524	1.00[AMR][1000 genomes]
rs12538086	1.00[AMR][1000 genomes]
rs17165715	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17165789	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57685335	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58065507	1.00[AMR][1000 genomes]
rs59265139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61692633	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs73288318	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73288393	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73301054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:12252000-12271600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:12252000-12277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:12252000-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
6	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
7	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
8	chr7:12252200-12279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:12252200-12279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:12252400-12269400	Weak transcription	HUVEC	blood vessel
11	chr7:12252400-12271200	Weak transcription	K562	blood
12	chr7:12252400-12271400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:12252400-12272600	Weak transcription	Gastric	stomach
14	chr7:12252400-12277200	Weak transcription	Fetal Brain Male	brain
15	chr7:12252400-12278600	Weak transcription	NHEK	skin
16	chr7:12252400-12281600	Weak transcription	HSMMtube	muscle
17	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
18	chr7:12252600-12271000	Weak transcription	Fetal Heart	heart
19	chr7:12252600-12278200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:12252600-12279600	Weak transcription	Brain Angular Gyrus	brain
21	chr7:12252800-12272600	Weak transcription	Hela-S3	cervix
22	chr7:12252800-12279000	Weak transcription	Brain Substantia Nigra	brain
23	chr7:12253200-12272400	Weak transcription	HepG2	liver
24	chr7:12254000-12279400	Strong transcription	Placenta	Placenta
25	chr7:12255200-12279000	Strong transcription	Liver	Liver
26	chr7:12256400-12269400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr7:12256400-12271000	Weak transcription	Fetal Stomach	stomach
28	chr7:12256400-12279400	Weak transcription	Psoas Muscle	Psoas
29	chr7:12256600-12270600	Weak transcription	Lung	lung
30	chr7:12256600-12279600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:12257200-12278400	Weak transcription	Fetal Brain Female	brain
32	chr7:12258800-12272800	Weak transcription	Rectal Smooth Muscle	rectum
33	chr7:12259000-12277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr7:12259000-12278800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr7:12259200-12277200	Weak transcription	Fetal Muscle Leg	muscle
36	chr7:12259800-12283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr7:12260200-12275800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr7:12260400-12271400	Weak transcription	HSMM	muscle
39	chr7:12260400-12279400	Weak transcription	NHDF-Ad	bronchial
40	chr7:12260600-12268800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr7:12260800-12270200	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr7:12260800-12270600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr7:12261200-12269400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr7:12261400-12271000	Weak transcription	Aorta	Aorta
45	chr7:12261400-12272200	Weak transcription	Brain Germinal Matrix	brain
46	chr7:12261400-12277800	Weak transcription	Fetal Kidney	kidney
47	chr7:12261600-12269400	Weak transcription	Fetal Intestine Large	intestine
48	chr7:12261600-12270200	Weak transcription	Pancreas	Pancrea
49	chr7:12261600-12278000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr7:12262600-12274000	Weak transcription	Colon Smooth Muscle	Colon

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