Variant report

Variant	rs62483627
Chromosome Location	chr7:106856002-106856003
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	chr7:106827310..106829106-chr7:106852636..106856813,3	K562	blood:
2	chr7:106852681..106856465-chr7:106859214..106862560,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12670688	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12672451	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13230144	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17153981	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2107317	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2237658	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2237659	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237660	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2237661	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2237662	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2237665	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2283038	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2301801	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2395868	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2395869	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34021916	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3801964	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3801966	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62483619	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62483623	0.81[ASN][1000 genomes]
rs62483629	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62483633	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62483634	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62483640	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62483641	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7785892	0.87[ASN][1000 genomes]
rs7803151	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[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	nsv831087	chr7:106673465-106872460	Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3383027	chr7:106802625-107096474	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv888939	chr7:106849393-107045700	ZNF genes & repeats Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
4	esv2756226	chr7:106850755-106944563	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs62483627	BCAP29	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106838200-106865200	Weak transcription	Stomach Mucosa	stomach
2	chr7:106844000-106870400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr7:106844200-106873200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:106844600-106873600	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr7:106844600-106880400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr7:106844600-106888400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:106846000-106925800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr7:106846200-106870600	Weak transcription	NH-A	brain
9	chr7:106846400-106862400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:106849000-106873200	Weak transcription	Brain Anterior Caudate	brain
11	chr7:106849200-106867800	Weak transcription	Brain Hippocampus Middle	brain
12	chr7:106849200-106872600	Weak transcription	HSMM	muscle
13	chr7:106850400-106890000	Weak transcription	Hela-S3	cervix
14	chr7:106850600-106860600	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr7:106850800-106865400	Weak transcription	Fetal Lung	lung
16	chr7:106850800-106869000	Weak transcription	NHEK	skin
17	chr7:106850800-106871000	Weak transcription	HMEC	breast
18	chr7:106850800-106895200	Weak transcription	Colon Smooth Muscle	Colon
19	chr7:106851000-106861000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr7:106851000-106864600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr7:106851000-106864800	Weak transcription	Aorta	Aorta
22	chr7:106851000-106865000	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:106851000-106865000	Weak transcription	HepG2	liver
24	chr7:106851000-106865200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:106851000-106873600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:106851000-106897600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr7:106851000-106946000	Weak transcription	Esophagus	oesophagus
28	chr7:106851200-106863400	Weak transcription	Spleen	Spleen
29	chr7:106851200-106864600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr7:106851200-106864800	Weak transcription	Liver	Liver
31	chr7:106851200-106864800	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:106851200-106865000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr7:106851200-106865400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:106851200-106866000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:106851200-106869200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:106851200-106869200	Weak transcription	Osteobl	bone
37	chr7:106851200-106873200	Weak transcription	Pancreas	Pancrea
38	chr7:106851200-106874800	Weak transcription	Ovary	ovary
39	chr7:106851200-106882200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr7:106851200-106888200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr7:106851200-106892400	Weak transcription	Gastric	stomach
42	chr7:106851200-106892600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr7:106851400-106864800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:106851400-106870600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:106851400-106873200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr7:106851600-106859200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:106851600-106864400	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:106851600-106866200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:106851600-106871400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:106851800-106863400	Weak transcription	Duodenum Mucosa	Duodenum

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