Variant report

Variant	rs62291984
Chromosome Location	chr4:7771416-7771417
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7767721..7770258-chr4:7770613..7772876,3	K562	blood:
2	chr4:7769826..7772813-chr4:7778014..7779534,2	K562	blood:
3	chr4:7756665..7758201-chr4:7770408..7772068,2	K562	blood:
4	chr4:7770767..7773381-chr4:7774826..7777247,2	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11721583	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11721609	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11724632	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11728778	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11729332	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11729602	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11730169	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11731942	0.86[EUR][1000 genomes]
rs11733311	0.81[EUR][1000 genomes]
rs11734524	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11734860	0.87[EUR][1000 genomes]
rs11737447	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13113113	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13117918	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13125295	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs13132939	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17382379	0.89[EUR][1000 genomes]
rs17382393	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17466895	0.89[EUR][1000 genomes]
rs34250310	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34276892	0.82[EUR][1000 genomes]
rs34352176	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34949259	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35041036	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35161247	0.91[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs35509185	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35515779	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35592594	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35617438	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35672467	0.83[AFR][1000 genomes]
rs35870249	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35889107	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3934645	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs41264705	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4443284	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4594724	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs55698135	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55740648	0.81[EUR][1000 genomes]
rs56270003	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs56352084	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58457272	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61036795	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62289276	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62289280	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62291980	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62291982	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62291983	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs885260	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs885261	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][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	nsv878570	chr4:7534603-7836835	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv1007319	chr4:7705550-7832097	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv537018	chr4:7705550-7832097	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer 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	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7746200-7772000	Weak transcription	Brain Anterior Caudate	brain
2	chr4:7757000-7772000	Strong transcription	Brain Germinal Matrix	brain
3	chr4:7757600-7779600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr4:7757800-7772000	Strong transcription	Fetal Intestine Small	intestine
5	chr4:7758000-7780800	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr4:7758200-7783200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:7758400-7795400	Weak transcription	Hela-S3	cervix
8	chr4:7758600-7780600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr4:7759400-7790400	Weak transcription	Psoas Muscle	Psoas
10	chr4:7759800-7771600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:7759800-7773800	Weak transcription	Fetal Kidney	kidney
12	chr4:7760000-7783000	Strong transcription	HSMMtube	muscle
13	chr4:7760000-7783200	Strong transcription	HSMM	muscle
14	chr4:7760200-7774200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr4:7760200-7779400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:7760400-7780400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:7760600-7780000	Weak transcription	Right Atrium	heart
18	chr4:7761000-7780400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:7761200-7772000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:7761200-7781000	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr4:7761400-7773400	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr4:7761400-7784400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:7761800-7774400	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr4:7762000-7772000	Strong transcription	Fetal Intestine Large	intestine
25	chr4:7762000-7773800	Strong transcription	NHLF	lung
26	chr4:7762000-7788000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:7762000-7805800	Weak transcription	Stomach Mucosa	stomach
28	chr4:7762200-7772800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr4:7762400-7772200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr4:7763000-7775400	Weak transcription	Right Ventricle	heart
31	chr4:7763800-7772200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr4:7764000-7772000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr4:7764000-7772200	Weak transcription	Primary T cells from cord blood	blood
34	chr4:7764000-7773400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr4:7764000-7774400	Strong transcription	Adipose Nuclei	Adipose
36	chr4:7764200-7772000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr4:7764400-7776400	Strong transcription	Gastric	stomach
38	chr4:7764800-7774400	Strong transcription	Placenta	Placenta
39	chr4:7765000-7772600	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:7765000-7776600	Strong transcription	Spleen	Spleen
41	chr4:7765000-7780000	Strong transcription	Lung	lung
42	chr4:7766000-7772800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr4:7766000-7780600	Strong transcription	Osteobl	bone
44	chr4:7766200-7773800	Weak transcription	HMEC	breast
45	chr4:7766400-7772000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr4:7766600-7773800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:7766800-7781200	Strong transcription	HUVEC	blood vessel
48	chr4:7767000-7772600	Strong transcription	A549	lung
49	chr4:7767200-7772800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:7767200-7776600	Strong transcription	Placenta Amnion	Placenta Amnion

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