Variant report

Variant	rs62466393
Chromosome Location	chr7:66771381-66771382
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	chr7:66766528..66769516-chr7:66770098..66773304,3	K562	blood:

Variant related genes	Relation type
ENSG00000106610	Chromatin interaction
ENSG00000067601	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs58131305	0.95[ASN][1000 genomes]
rs59852655	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62466389	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62466392	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv888330	chr7:66502171-66877880	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
4	nsv1032237	chr7:66644492-66785029	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1027702	chr7:66722103-66841913	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	nsv1031048	chr7:66722103-66844039	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
7	nsv970872	chr7:66742783-66776118	Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62466393	RABGEF1	Cis_1M	lymphoblastoid	RTeQTL
rs62466393	LINC00174	cis	Thyroid	GTEx
rs62466393	LINC00174	cis	lung	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66767800-66780800	Weak transcription	Fetal Brain Male	brain
2	chr7:66768000-66773600	Weak transcription	Stomach Mucosa	stomach
3	chr7:66768200-66774000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:66768400-66771400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:66768400-66771800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr7:66768400-66772000	Weak transcription	Brain Germinal Matrix	brain
7	chr7:66768400-66772200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:66768400-66772200	Weak transcription	Spleen	Spleen
9	chr7:66768400-66772400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr7:66768400-66772400	Weak transcription	Brain Anterior Caudate	brain
11	chr7:66768400-66772400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr7:66768400-66772400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:66768400-66772600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:66768400-66772600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr7:66768400-66772600	Weak transcription	Aorta	Aorta
16	chr7:66768400-66772600	Weak transcription	Brain Angular Gyrus	brain
17	chr7:66768400-66772600	Weak transcription	Colonic Mucosa	Colon
18	chr7:66768400-66772600	Weak transcription	Fetal Lung	lung
19	chr7:66768400-66772600	Weak transcription	Gastric	stomach
20	chr7:66768400-66773200	Weak transcription	Fetal Brain Female	brain
21	chr7:66768400-66773200	Weak transcription	NHDF-Ad	bronchial
22	chr7:66768400-66773200	Weak transcription	Osteobl	bone
23	chr7:66768400-66773400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:66768400-66773400	Weak transcription	Ovary	ovary
25	chr7:66768400-66773400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr7:66768400-66773600	Weak transcription	Colon Smooth Muscle	Colon
27	chr7:66768400-66773800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr7:66768400-66774000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:66768400-66774000	Weak transcription	Rectal Smooth Muscle	rectum
30	chr7:66768400-66774600	Weak transcription	Small Intestine	intestine
31	chr7:66768400-66776600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:66768600-66771400	Weak transcription	Placenta	Placenta
33	chr7:66768600-66771600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr7:66768600-66771600	Weak transcription	Left Ventricle	heart
35	chr7:66768600-66772200	Weak transcription	Esophagus	oesophagus
36	chr7:66768600-66772200	Weak transcription	Thymus	Thymus
37	chr7:66768600-66772400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr7:66768600-66772400	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:66768600-66772600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr7:66768600-66773400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:66768600-66774000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr7:66768600-66782400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:66768800-66771400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr7:66768800-66771400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr7:66768800-66773200	Weak transcription	Psoas Muscle	Psoas
46	chr7:66768800-66773200	Weak transcription	HSMMtube	muscle
47	chr7:66768800-66775200	Strong transcription	Fetal Intestine Small	intestine
48	chr7:66768800-66783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr7:66768800-66783400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:66769000-66771400	Weak transcription	Rectal Mucosa Donor 31	rectum

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