Variant report

Variant	rs60480710
Chromosome Location	chr7:140261691-140261692
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:140254196..140258016-chr7:140259667..140262968,3	K562	blood:

Variant related genes	Relation type
ENSG00000146966	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10227869	1.00[EUR][1000 genomes]
rs11973083	1.00[EUR][1000 genomes]
rs11982424	1.00[EUR][1000 genomes]
rs11983453	1.00[EUR][1000 genomes]
rs1568640	1.00[AMR][1000 genomes]
rs269251	1.00[EUR][1000 genomes]
rs269252	1.00[EUR][1000 genomes]
rs269253	1.00[EUR][1000 genomes]
rs269260	1.00[EUR][1000 genomes]
rs55816014	1.00[EUR][1000 genomes]
rs56711326	1.00[EUR][1000 genomes]
rs57565761	1.00[EUR][1000 genomes]
rs57960333	1.00[EUR][1000 genomes]
rs58118476	1.00[EUR][1000 genomes]
rs58620263	1.00[AMR][1000 genomes]
rs59489402	1.00[EUR][1000 genomes]
rs60847193	1.00[AMR][1000 genomes]
rs60901124	1.00[EUR][1000 genomes]
rs61333130	1.00[EUR][1000 genomes]
rs61737088	1.00[EUR][1000 genomes]
rs61737090	1.00[EUR][1000 genomes]
rs6952059	1.00[EUR][1000 genomes]
rs6957365	1.00[EUR][1000 genomes]
rs6964971	1.00[EUR][1000 genomes]
rs6964982	1.00[EUR][1000 genomes]
rs6972562	1.00[EUR][1000 genomes]
rs6979290	1.00[EUR][1000 genomes]
rs73483934	1.00[AMR][1000 genomes]
rs73483942	1.00[AMR][1000 genomes]
rs73491542	1.00[AMR][1000 genomes]
rs73491552	1.00[AMR][1000 genomes]
rs73491556	1.00[AMR][1000 genomes]
rs73491570	1.00[AMR][1000 genomes]
rs73491576	1.00[AMR][1000 genomes]
rs73491591	1.00[AMR][1000 genomes]
rs73491595	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500429	1.00[AMR][1000 genomes]
rs73502154	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73736617	1.00[EUR][1000 genomes]
rs73736622	1.00[EUR][1000 genomes]
rs73736632	1.00[EUR][1000 genomes]
rs73736633	1.00[EUR][1000 genomes]
rs7795017	1.00[EUR][1000 genomes]
rs7804236	1.00[EUR][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	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
2	esv1802929	chr7:140212566-140285491	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140226200-140262800	Weak transcription	Gastric	stomach
2	chr7:140242000-140268000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:140242400-140263800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:140242800-140266800	Weak transcription	Lung	lung
5	chr7:140242800-140266800	Weak transcription	Right Atrium	heart
6	chr7:140243000-140262600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr7:140244800-140266800	Weak transcription	Liver	Liver
8	chr7:140245400-140266800	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr7:140247000-140276400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:140247000-140297400	Weak transcription	Spleen	Spleen
11	chr7:140247200-140262600	Weak transcription	NH-A	brain
12	chr7:140251400-140263800	Weak transcription	NHEK	skin
13	chr7:140251800-140266600	Strong transcription	Fetal Muscle Leg	muscle
14	chr7:140252400-140263000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:140252400-140266200	Strong transcription	Fetal Stomach	stomach
16	chr7:140252800-140262600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:140253200-140262400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr7:140253400-140262600	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:140253400-140262600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr7:140253800-140264800	Weak transcription	Small Intestine	intestine
21	chr7:140254000-140263000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:140254000-140266200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:140254400-140262600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr7:140255200-140267000	Strong transcription	Fetal Muscle Trunk	muscle
25	chr7:140255600-140262600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:140256200-140264000	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:140258000-140262400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:140258000-140262600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:140258000-140266800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr7:140258200-140262600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr7:140258200-140262600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr7:140258200-140262600	Weak transcription	Fetal Kidney	kidney
33	chr7:140258200-140267400	Weak transcription	Brain Angular Gyrus	brain
34	chr7:140259000-140261800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:140259200-140266600	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:140259400-140264600	Weak transcription	Placenta	Placenta
37	chr7:140259400-140266200	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr7:140259600-140262400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:140259600-140262600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:140259600-140262600	Weak transcription	Brain Germinal Matrix	brain
41	chr7:140259600-140264000	Weak transcription	Hela-S3	cervix
42	chr7:140259600-140264600	Weak transcription	Left Ventricle	heart
43	chr7:140259600-140268200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:140259800-140262000	Weak transcription	Ovary	ovary
45	chr7:140259800-140262800	Weak transcription	NHLF	lung
46	chr7:140259800-140263000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr7:140259800-140264000	Weak transcription	Adipose Nuclei	Adipose
48	chr7:140259800-140264800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr7:140259800-140266800	Weak transcription	Brain Anterior Caudate	brain
50	chr7:140259800-140267400	Weak transcription	Brain Cingulate Gyrus	brain

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