Variant report

Variant	rs6666022
Chromosome Location	chr1:94168576-94168577
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:94159426..94161793-chr1:94168321..94171203,3	MCF-7	breast:
2	chr1:94163111..94165916-chr1:94167834..94169429,2	MCF-7	breast:
3	chr1:94145528..94149316-chr1:94167727..94171960,6	MCF-7	breast:
4	chr1:94145934..94149304-chr1:94166998..94169762,4	MCF-7	breast:
5	chr1:94167250..94169551-chr1:94199187..94201792,2	MCF-7	breast:
6	chr1:94167875..94169614-chr1:94173544..94175264,2	MCF-7	breast:
7	chr1:94157694..94160126-chr1:94167875..94169422,2	MCF-7	breast:
8	chr1:94167331..94169898-chr1:94245567..94247207,2	MCF-7	breast:
9	chr1:94167943..94169635-chr1:94239883..94242203,2	MCF-7	breast:
10	chr1:94166518..94169096-chr1:94169966..94171493,2	MCF-7	breast:
11	chr1:94160881..94162461-chr1:94168360..94171012,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNTTIP2-1	chr1:94168422-94169140	NONHSAT004544
2	lnc-FNBP1L-3	chr1:94164692-94169123	NONHSAT004543

No data

Variant related genes	Relation type
ENSG00000230439	Chromatin interaction
ENSG00000137936	Chromatin interaction

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

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

rs_ID	r²[population]
rs10735786	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874793	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12092517	0.91[ASN][1000 genomes]
rs12760246	0.82[ASN][1000 genomes]
rs1891139	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1891140	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893248	0.88[AMR][1000 genomes];0.82[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
rs6666022	GCLM	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94153800-94171600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:94155600-94171000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:94159000-94173600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:94159600-94173800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:94160600-94171000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:94161600-94173800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:94163000-94171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:94163800-94171000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr1:94164000-94170000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:94164000-94170400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:94164000-94172200	Enhancers	HMEC	breast
12	chr1:94164800-94169000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:94164800-94172000	Enhancers	Primary B cells from peripheral blood	blood
14	chr1:94165000-94169800	Enhancers	Placenta	Placenta
15	chr1:94165200-94171200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr1:94165800-94168800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:94165800-94170200	Enhancers	Placenta Amnion	Placenta Amnion
18	chr1:94166000-94168600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:94166000-94168600	Enhancers	Esophagus	oesophagus
20	chr1:94166000-94169600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:94166200-94170200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:94166200-94170200	Enhancers	NHDF-Ad	bronchial
23	chr1:94166200-94170400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:94166400-94168600	Enhancers	Fetal Lung	lung
25	chr1:94166400-94168600	Enhancers	NHLF	lung
26	chr1:94166400-94170000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:94166400-94170200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr1:94166600-94169800	Enhancers	NH-A	brain
29	chr1:94166600-94171200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:94166600-94171400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:94166800-94168800	Enhancers	HSMMtube	muscle
32	chr1:94166800-94169000	Enhancers	Psoas Muscle	Psoas
33	chr1:94166800-94169400	Enhancers	Left Ventricle	heart
34	chr1:94167000-94168600	Enhancers	Stomach Mucosa	stomach
35	chr1:94167200-94168800	Enhancers	Fetal Thymus	thymus
36	chr1:94167200-94168800	Enhancers	Right Atrium	heart
37	chr1:94167200-94169400	Enhancers	Fetal Muscle Leg	muscle
38	chr1:94167200-94170000	Enhancers	Spleen	Spleen
39	chr1:94167200-94170200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:94167200-94171800	Enhancers	Primary B cells from cord blood	blood
41	chr1:94167400-94169800	Enhancers	K562	blood
42	chr1:94167400-94170200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:94167600-94168600	Flanking Active TSS	Hela-S3	cervix
44	chr1:94167600-94168800	Enhancers	Fetal Muscle Trunk	muscle
45	chr1:94167600-94169400	Enhancers	Colonic Mucosa	Colon
46	chr1:94167600-94169800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr1:94167600-94170200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:94167800-94168600	Enhancers	Fetal Heart	heart
49	chr1:94167800-94168800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr1:94167800-94168800	Enhancers	Osteobl	bone

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