Variant report

Variant	rs3814042
Chromosome Location	chr2:46877255-46877256
allele	A/C
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:12)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46689308..46691938-chr2:46875674..46878193,3	MCF-7	breast:
2	chr2:46689699..46691726-chr2:46876949..46878642,2	K562	blood:
3	chr2:46846051..46848798-chr2:46875763..46878074,2	K562	blood:
4	chr2:46846910..46848798-chr2:46875562..46877263,2	K562	blood:
5	chr2:46874572..46876789-chr2:46877093..46878629,2	MCF-7	breast:
6	chr2:46858190..46860750-chr2:46875566..46879072,3	MCF-7	breast:
7	chr2:46863139..46865954-chr2:46873565..46877527,3	K562	blood:
8	chr2:46861539..46864465-chr2:46873004..46877415,5	MCF-7	breast:
9	chr2:46768612..46769485-chr2:46877016..46877865,2	K562	blood:
10	chr2:46872845..46875146-chr2:46877009..46879600,2	K562	blood:
11	chr2:46875318..46877829-chr2:46882482..46884678,2	K562	blood:
12	chr2:46871091..46873562-chr2:46875549..46877733,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRIPT-1	chr2:46876959-46877718	NONHSAT070518

No data

Variant related genes	Relation type
ENSG00000119729	Chromatin interaction
ENSG00000250565	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 4 )

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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3814042	CRIPT	cis	parietal	SCAN
rs3814042	CALM2	cis	parietal	SCAN
rs3814042	CRIPT	cis	lymphoblastoid	seeQTL
rs3814042	PIGF	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46854800-46878600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr2:46869400-46883400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr2:46869600-46881200	Weak transcription	Primary T cells from cord blood	blood
4	chr2:46869800-46878400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:46869800-46882200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:46870000-46880800	Weak transcription	Primary B cells from cord blood	blood
7	chr2:46870000-46891000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:46870200-46889600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:46870400-46878200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:46871000-46877400	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:46872000-46883400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:46872800-46877600	Enhancers	Fetal Brain Male	brain
13	chr2:46873000-46880600	Weak transcription	Right Atrium	heart
14	chr2:46873200-46879000	Weak transcription	Brain Cingulate Gyrus	brain
15	chr2:46873200-46879800	Weak transcription	Psoas Muscle	Psoas
16	chr2:46873400-46878000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:46873400-46878200	Weak transcription	Adipose Nuclei	Adipose
18	chr2:46873400-46878200	Weak transcription	Ovary	ovary
19	chr2:46873400-46878400	Weak transcription	Fetal Stomach	stomach
20	chr2:46873400-46878600	Weak transcription	HSMM	muscle
21	chr2:46873400-46878800	Weak transcription	Colon Smooth Muscle	Colon
22	chr2:46873400-46881800	Weak transcription	Brain Angular Gyrus	brain
23	chr2:46873400-46883400	Weak transcription	Right Ventricle	heart
24	chr2:46873400-46884000	Weak transcription	Brain Anterior Caudate	brain
25	chr2:46873600-46877600	Weak transcription	Fetal Lung	lung
26	chr2:46873800-46878200	Weak transcription	Fetal Muscle Leg	muscle
27	chr2:46874000-46880400	Weak transcription	HSMMtube	muscle
28	chr2:46874400-46877600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:46874400-46878000	Weak transcription	NHDF-Ad	bronchial
30	chr2:46874400-46878400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr2:46874400-46878400	Weak transcription	NHLF	lung
32	chr2:46874600-46883600	Weak transcription	Placenta	Placenta
33	chr2:46875400-46880400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:46876000-46878000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:46876000-46878600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr2:46876000-46880000	Weak transcription	Osteobl	bone
37	chr2:46876200-46878200	Weak transcription	Liver	Liver
38	chr2:46876400-46879400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr2:46876400-46879600	Weak transcription	HepG2	liver
40	chr2:46876600-46879800	Enhancers	A549	lung
41	chr2:46877000-46877400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:46877200-46880600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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