Variant report

Variant	rs13430261
Chromosome Location	chr2:39750891-39750892
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39750470..39752970-chr2:39756347..39759099,3	K562	blood:
2	chr2:39742944..39745586-chr2:39749243..39752053,2	K562	blood:
3	chr2:39749162..39751923-chr2:39751985..39754949,2	MCF-7	breast:
4	chr2:39750470..39752970-chr2:39756347..39759099,2	K562	blood:
5	chr2:39742413..39744444-chr2:39749580..39752053,2	K562	blood:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10182967	1.00[EUR][1000 genomes]
rs10183115	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10185836	1.00[EUR][1000 genomes]
rs10194751	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10207329	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13398961	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13410300	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs13414685	1.00[EUR][1000 genomes]
rs13414845	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13415549	1.00[EUR][1000 genomes]
rs28667057	1.00[EUR][1000 genomes]
rs28885808	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6742173	1.00[EUR][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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13430261	CRIM1	cis	cerebellum	SCAN
rs13430261	FAM82A1	cis	parietal	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39744200-39753200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr2:39744800-39751200	Weak transcription	Right Ventricle	heart
3	chr2:39745000-39751000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:39745000-39752000	Weak transcription	Brain Angular Gyrus	brain
5	chr2:39747800-39751200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
6	chr2:39748400-39753600	Enhancers	Psoas Muscle	Psoas
7	chr2:39748600-39753400	Enhancers	Left Ventricle	heart
8	chr2:39748800-39753000	Enhancers	Stomach Smooth Muscle	stomach
9	chr2:39749000-39752200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:39749200-39751200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr2:39749400-39751000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:39749400-39751000	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr2:39749400-39757200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:39749400-39758000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:39749400-39761000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr2:39749600-39753400	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr2:39749800-39751000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:39749800-39751000	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr2:39749800-39751000	Enhancers	HMEC	breast
20	chr2:39749800-39752600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:39749800-39752600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr2:39749800-39753000	Enhancers	HSMM	muscle
23	chr2:39749800-39753400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:39750000-39751000	Weak transcription	Stomach Mucosa	stomach
25	chr2:39750000-39752000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:39750000-39752400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr2:39750000-39752600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:39750000-39752600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr2:39750000-39752600	Enhancers	Hela-S3	cervix
30	chr2:39750000-39752600	Enhancers	NHLF	lung
31	chr2:39750000-39752800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:39750000-39761000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:39750200-39751000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:39750200-39751800	Enhancers	HUVEC	blood vessel
35	chr2:39750200-39752600	Enhancers	NHDF-Ad	bronchial
36	chr2:39750200-39752800	Enhancers	NH-A	brain
37	chr2:39750200-39753400	Enhancers	Adipose Nuclei	Adipose
38	chr2:39750200-39753400	Enhancers	Fetal Heart	heart
39	chr2:39750400-39751200	Enhancers	Duodenum Smooth Muscle	Duodenum
40	chr2:39750400-39751200	Weak transcription	Fetal Stomach	stomach
41	chr2:39750400-39751400	Flanking Active TSS	Osteobl	bone
42	chr2:39750400-39752600	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr2:39750400-39752600	Enhancers	Aorta	Aorta
44	chr2:39750400-39753200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:39750400-39753400	Enhancers	Fetal Muscle Leg	muscle
46	chr2:39750600-39751000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:39750600-39751000	Enhancers	HSMMtube	muscle
48	chr2:39750600-39751200	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr2:39750600-39751400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:39750600-39751400	Enhancers	Pancreas	Pancrea

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