Variant report

Variant	rs61782410
Chromosome Location	chr1:94292172-94292173
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94290941..94292978-chr1:94306774..94308364,2	K562	blood:

Extended variants
information (count: 76 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10489605	0.81[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs10874795	0.97[ASN][1000 genomes]
rs1108528	0.81[EUR][1000 genomes]
rs11164994	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11165001	0.91[ASN][1000 genomes]
rs11165019	0.97[ASN][1000 genomes]
rs12079584	0.97[ASN][1000 genomes]
rs12239830	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17100397	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17110408	0.91[ASN][1000 genomes]
rs17304770	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17878271	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17878294	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17881810	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17884788	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17885151	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17886352	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1877605	0.82[EUR][1000 genomes]
rs2223908	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3761913	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs41292665	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4615846	0.82[ASN][1000 genomes]
rs57870303	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61425457	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61781049	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61781051	0.94[EUR][1000 genomes]
rs61781053	0.96[EUR][1000 genomes]
rs61781054	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61781055	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61781056	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61781057	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782162	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782163	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782164	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782165	0.92[AFR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782398	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782399	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782400	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782403	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782404	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782405	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782408	0.82[AFR][1000 genomes]
rs61782413	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782449	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61782450	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61782451	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61782458	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61782459	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6660794	0.91[ASN][1000 genomes]
rs6671839	0.91[ASN][1000 genomes]
rs6674149	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6689215	0.89[ASN][1000 genomes]
rs6689746	0.91[ASN][1000 genomes]
rs6703468	0.91[ASN][1000 genomes]
rs717913	0.91[ASN][1000 genomes]
rs72723114	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723118	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723125	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723138	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723157	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723165	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72723169	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72723178	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72967397	0.97[ASN][1000 genomes]
rs7523682	0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1877	chr1:94247756-94292908	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv508415	chr1:94256122-94305339	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	esv1822452	chr1:94278128-94320233	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	121 gene(s)	inside rSNPs	diseases
4	esv1003322	chr1:94285785-94294520	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	esv3319346	chr1:94286364-94293162	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
6	esv3513622	chr1:94287264-94292362	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv3319347	chr1:94287389-94292237	Enhancers Weak transcription Genic enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
8	esv3513620	chr1:94287664-94292262	Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
9	nsv546831	chr1:94288524-94294190	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	nsv546832	chr1:94288524-94294492	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1831177	chr1:94288524-94304239	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61782410	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94279600-94302800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:94283400-94310000	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr1:94283600-94293400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:94284000-94294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:94284200-94292200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:94284200-94306200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:94284200-94311200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:94284400-94296000	Weak transcription	Fetal Intestine Small	intestine
9	chr1:94286400-94294800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:94286600-94295600	Enhancers	Placenta Amnion	Placenta Amnion
11	chr1:94287000-94292400	Weak transcription	HUVEC	blood vessel
12	chr1:94287400-94293600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:94287600-94292600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr1:94287600-94292800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:94287600-94292800	Weak transcription	A549	lung
16	chr1:94287600-94292800	Weak transcription	HSMM	muscle
17	chr1:94287600-94292800	Weak transcription	HSMMtube	muscle
18	chr1:94287600-94292800	Weak transcription	NH-A	brain
19	chr1:94287600-94293200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:94287600-94294000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:94287800-94292800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr1:94288200-94293200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:94288800-94292400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:94288800-94292400	Weak transcription	NHDF-Ad	bronchial
25	chr1:94288800-94292800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr1:94288800-94293600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr1:94289000-94292400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:94289000-94292800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr1:94289000-94293000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr1:94289000-94293000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:94289000-94293200	Weak transcription	NHEK	skin
32	chr1:94289200-94292800	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr1:94289600-94292600	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr1:94290000-94296400	Enhancers	Placenta	Placenta
35	chr1:94290200-94311400	Weak transcription	Aorta	Aorta
36	chr1:94290600-94292600	Weak transcription	Fetal Muscle Leg	muscle
37	chr1:94290600-94293200	Weak transcription	HMEC	breast
38	chr1:94290800-94293400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr1:94291200-94294800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:94291800-94292600	Enhancers	Spleen	Spleen
41	chr1:94291800-94293400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr1:94291800-94293600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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