Variant report

Variant	rs73301035
Chromosome Location	chr7:12257359-12257360
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12256580..12259981-chr7:12260401..12263217,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10488193	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11980425	0.80[ASN][1000 genomes]
rs12699320	0.89[ASN][1000 genomes]
rs1468800	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16877361	0.88[EUR][1000 genomes]
rs17165736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17165737	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17165744	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17165746	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17165750	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17595150	0.87[ASN][1000 genomes]
rs17595402	0.89[ASN][1000 genomes]
rs17605315	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17665337	0.89[ASN][1000 genomes]
rs60495893	0.85[ASN][1000 genomes]
rs60699002	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61225336	0.93[EUR][1000 genomes]
rs6460904	0.84[EUR][1000 genomes]
rs6978684	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73284389	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73299019	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs73299021	0.88[AFR][1000 genomes]
rs73299037	0.85[AFR][1000 genomes]
rs73299040	0.93[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs73301046	0.85[AFR][1000 genomes]
rs73677511	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677523	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73677558	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73678692	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[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:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12261200	Weak transcription	Aorta	Aorta
2	chr7:12252000-12261200	Weak transcription	Esophagus	oesophagus
3	chr7:12252000-12261200	Weak transcription	Stomach Mucosa	stomach
4	chr7:12252000-12263600	Weak transcription	Thymus	Thymus
5	chr7:12252000-12266200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:12252000-12271000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:12252000-12271600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr7:12252000-12277600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr7:12252000-12278200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:12252000-12280000	Weak transcription	Colonic Mucosa	Colon
11	chr7:12252000-12280000	Weak transcription	Right Ventricle	heart
12	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
13	chr7:12252200-12258400	Weak transcription	HSMM	muscle
14	chr7:12252200-12259600	Weak transcription	HMEC	breast
15	chr7:12252200-12262200	Weak transcription	GM12878-XiMat	blood
16	chr7:12252200-12263600	Weak transcription	NH-A	brain
17	chr7:12252200-12263800	Weak transcription	Osteobl	bone
18	chr7:12252200-12279200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:12252200-12279400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:12252400-12258400	Weak transcription	Brain Anterior Caudate	brain
21	chr7:12252400-12258400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:12252400-12258400	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:12252400-12259000	Weak transcription	Brain Germinal Matrix	brain
24	chr7:12252400-12259200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr7:12252400-12261200	Weak transcription	Pancreas	Pancrea
26	chr7:12252400-12262200	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:12252400-12263200	Weak transcription	Left Ventricle	heart
28	chr7:12252400-12263400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:12252400-12265800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:12252400-12266000	Weak transcription	Small Intestine	intestine
31	chr7:12252400-12269400	Weak transcription	HUVEC	blood vessel
32	chr7:12252400-12271200	Weak transcription	K562	blood
33	chr7:12252400-12271400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr7:12252400-12272600	Weak transcription	Gastric	stomach
35	chr7:12252400-12277200	Weak transcription	Fetal Brain Male	brain
36	chr7:12252400-12278600	Weak transcription	NHEK	skin
37	chr7:12252400-12281600	Weak transcription	HSMMtube	muscle
38	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
39	chr7:12252600-12258200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:12252600-12258200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr7:12252600-12258400	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr7:12252600-12259400	Weak transcription	NHDF-Ad	bronchial
43	chr7:12252600-12264000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:12252600-12271000	Weak transcription	Fetal Heart	heart
45	chr7:12252600-12278200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr7:12252600-12279600	Weak transcription	Brain Angular Gyrus	brain
47	chr7:12252800-12257600	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:12252800-12272600	Weak transcription	Hela-S3	cervix
49	chr7:12252800-12279000	Weak transcription	Brain Substantia Nigra	brain
50	chr7:12253200-12272400	Weak transcription	HepG2	liver

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