Variant report

Variant	rs10735786
Chromosome Location	chr1:94162575-94162576
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:94160059..94162783-chr1:94164922..94167599,3	K562	blood:
2	chr1:94161265..94163775-chr1:94168879..94170606,3	K562	blood:
3	chr1:94161265..94162852-chr1:94168879..94170538,2	K562	blood:
4	chr1:94157790..94160222-chr1:94162469..94164746,2	K562	blood:
5	chr1:94147624..94149289-chr1:94160364..94162854,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10874793	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12092517	0.91[ASN][1000 genomes]
rs12760246	0.82[ASN][1000 genomes]
rs1891139	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891140	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893248	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666022	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10735786	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94148200-94167200	Weak transcription	Right Atrium	heart
2	chr1:94153800-94171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:94155600-94171000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:94157200-94165400	Weak transcription	Pancreas	Pancrea
5	chr1:94157400-94167600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr1:94158400-94165200	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:94158400-94166600	Weak transcription	Gastric	stomach
8	chr1:94158400-94168200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:94158800-94162600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:94158800-94166400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:94159000-94173600	Weak transcription	Fetal Intestine Small	intestine
12	chr1:94159400-94165000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:94159600-94166200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:94159600-94173800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr1:94160600-94164800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:94160600-94166000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:94160600-94166400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:94160600-94167200	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:94160600-94171000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:94160800-94162600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:94160800-94163600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:94160800-94165000	Weak transcription	Lung	lung
23	chr1:94160800-94165400	Weak transcription	Spleen	Spleen
24	chr1:94161200-94164000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr1:94161200-94164000	Weak transcription	Esophagus	oesophagus
26	chr1:94161200-94166600	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr1:94161200-94168400	Weak transcription	Fetal Kidney	kidney
28	chr1:94161400-94164400	Weak transcription	Fetal Thymus	thymus
29	chr1:94161400-94166000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:94161400-94166200	Weak transcription	A549	lung
31	chr1:94161400-94166200	Weak transcription	NHDF-Ad	bronchial
32	chr1:94161600-94163800	Weak transcription	NHEK	skin
33	chr1:94161600-94164000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:94161600-94164000	Weak transcription	HMEC	breast
35	chr1:94161600-94164800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:94161600-94166000	Weak transcription	HSMM	muscle
37	chr1:94161600-94166200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:94161600-94167200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:94161600-94173800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr1:94161800-94163000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:94161800-94163600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:94162000-94163600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:94162000-94165800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:94162000-94167800	Weak transcription	Adipose Nuclei	Adipose
45	chr1:94162200-94165000	Weak transcription	Placenta	Placenta
46	chr1:94162200-94167200	Weak transcription	Primary B cells from cord blood	blood
47	chr1:94162400-94162800	Weak transcription	GM12878-XiMat	blood
48	chr1:94162400-94163600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:94162400-94164800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr1:94162400-94166200	Weak transcription	Hela-S3	cervix

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