Variant report

Variant	rs6741114
Chromosome Location	chr2:46883839-46883840
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46875318..46877829-chr2:46882482..46884678,2	K562	blood:
2	chr2:46879813..46881998-chr2:46882962..46885478,2	K562	blood:
3	chr2:46882814..46885319-chr2:47100708..47102230,2	MCF-7	breast:
4	chr2:46881672..46884638-chr2:47005149..47007963,2	MCF-7	breast:
5	chr2:46883801..46884795-chr2:47003531..47004465,4	MCF-7	breast:
6	chr2:46878154..46881998-chr2:46882962..46887664,5	K562	blood:
7	chr2:46882950..46884882-chr2:46885650..46888965,3	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs11125086	0.87[ASN][1000 genomes]
rs4952838	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4953403	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4953404	0.89[ASN][1000 genomes]
rs4953406	0.88[ASN][1000 genomes]
rs4953407	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs68021574	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1009735	chr2:46724523-46913152	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
7	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6741114	C2orf61	cis	parietal	SCAN
rs6741114	CRIPT	Cis_1M	lymphoblastoid	RTeQTL
rs6741114	CRIPT	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46870000-46891000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:46870200-46889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:46873400-46884000	Weak transcription	Brain Anterior Caudate	brain
4	chr2:46877600-46884400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr2:46878400-46884600	Enhancers	NHLF	lung
6	chr2:46879400-46884600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:46879800-46884800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:46880000-46884800	Enhancers	Osteobl	bone
9	chr2:46880600-46884600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:46880800-46884800	Enhancers	Fetal Lung	lung
11	chr2:46882200-46884600	Enhancers	Colon Smooth Muscle	Colon
12	chr2:46882200-46884800	Enhancers	A549	lung
13	chr2:46882400-46884200	Enhancers	Muscle Satellite Cultured Cells	--
14	chr2:46882400-46884200	Enhancers	HUVEC	blood vessel
15	chr2:46882400-46889800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:46882600-46884000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:46882600-46884000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:46882600-46884000	Enhancers	Sigmoid Colon	Sigmoid Colon
19	chr2:46882600-46884400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:46882600-46884400	Enhancers	NH-A	brain
21	chr2:46882800-46884000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:46882800-46884200	Enhancers	Rectal Mucosa Donor 31	rectum
23	chr2:46882800-46884600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:46883000-46884400	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr2:46883000-46884400	Enhancers	Rectal Smooth Muscle	rectum
26	chr2:46883200-46884200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:46883200-46884400	Enhancers	Duodenum Mucosa	Duodenum
28	chr2:46883400-46884000	Enhancers	Left Ventricle	heart
29	chr2:46883400-46884200	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr2:46883400-46884200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:46883400-46884200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr2:46883400-46884200	Enhancers	Right Atrium	heart
33	chr2:46883400-46884200	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr2:46883400-46884200	Enhancers	Small Intestine	intestine
35	chr2:46883400-46884400	Enhancers	Lung	lung
36	chr2:46883400-46884400	Enhancers	Ovary	ovary
37	chr2:46883400-46884400	Flanking Active TSS	NHDF-Ad	bronchial
38	chr2:46883400-46884600	Enhancers	Adipose Nuclei	Adipose
39	chr2:46883400-46884600	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr2:46883400-46884600	Enhancers	Stomach Smooth Muscle	stomach
41	chr2:46883400-46884600	Enhancers	Spleen	Spleen
42	chr2:46883400-46884800	Enhancers	Fetal Stomach	stomach
43	chr2:46883600-46884000	Weak transcription	Right Ventricle	heart
44	chr2:46883600-46884200	Enhancers	Fetal Muscle Trunk	muscle
45	chr2:46883600-46884200	Enhancers	Placenta	Placenta
46	chr2:46883600-46884400	Enhancers	Fetal Muscle Leg	muscle
47	chr2:46883600-46884600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:46883800-46884200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr2:46883800-46884200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:46883800-46884400	Enhancers	Duodenum Smooth Muscle	Duodenum

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