Variant report

Variant	rs4144796
Chromosome Location	chr2:233562210-233562211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233561381..233562276-chr6:35227526..35228227,2	Hela-S3	cervix:
2	chr2:233562031..233562988-chr6:76458771..76459462,2	Hela-S3	cervix:
3	chr2:233542760..233544687-chr2:233561332..233564273,2	K562	blood:
4	chr2:233561154..233564737-chr2:233566503..233568685,5	K562	blood:
5	chr2:233496783..233498486-chr2:233560263..233562772,2	MCF-7	breast:
6	chr2:233560918..233562654-chr2:233567165..233569049,2	K562	blood:

Variant related genes	Relation type
ENSG00000204120	Chromatin interaction
ENSG00000196586	Chromatin interaction
ENSG00000239170	Chromatin interaction
ENSG00000115468	Chromatin interaction
ENSG00000065029	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10211596	0.86[ASN][1000 genomes]
rs13029336	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1515961	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs283472	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs283473	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35853577	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6437071	0.94[AFR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7557607	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4144796	C2orf82	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233561200-233562800	Active TSS	Thymus	Thymus
2	chr2:233561400-233562600	Active TSS	Primary B cells from cord blood	blood
3	chr2:233561400-233562600	Active TSS	Primary T cells from cord blood	blood
4	chr2:233561400-233562600	Active TSS	Brain Angular Gyrus	brain
5	chr2:233561400-233562600	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr2:233561400-233562800	Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr2:233561400-233562800	Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr2:233561400-233562800	Active TSS	Brain Anterior Caudate	brain
9	chr2:233561400-233562800	Active TSS	Brain Germinal Matrix	brain
10	chr2:233561400-233562800	Active TSS	Brain Hippocampus Middle	brain
11	chr2:233561400-233562800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr2:233561400-233562800	Active TSS	Fetal Brain Male	brain
13	chr2:233561400-233562800	Active TSS	Fetal Brain Female	brain
14	chr2:233561400-233563000	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr2:233561400-233563000	Active TSS	Colon Smooth Muscle	Colon
16	chr2:233561400-233563000	Active TSS	Left Ventricle	heart
17	chr2:233561400-233563000	Active TSS	NH-A	brain
18	chr2:233561400-233563200	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr2:233561400-233563200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:233561400-233563200	Active TSS	Fetal Intestine Large	intestine
21	chr2:233561400-233563200	Active TSS	Fetal Muscle Trunk	muscle
22	chr2:233561400-233563400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr2:233561400-233563400	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr2:233561400-233563800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:233561400-233563800	Active TSS	Psoas Muscle	Psoas
26	chr2:233561600-233562400	Active TSS	Primary T helper cells fromperipheralblood	blood
27	chr2:233561600-233562400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr2:233561600-233562600	Active TSS	Primary hematopoietic stem cells short term culture	blood
29	chr2:233561600-233562600	Active TSS	Fetal Stomach	stomach
30	chr2:233561600-233562800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr2:233561600-233562800	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr2:233561600-233562800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:233561600-233562800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
34	chr2:233561600-233562800	Active TSS	Brain Cingulate Gyrus	brain
35	chr2:233561600-233562800	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr2:233561600-233562800	Active TSS	Brain Substantia Nigra	brain
37	chr2:233561600-233562800	Active TSS	Rectal Smooth Muscle	rectum
38	chr2:233561600-233562800	Active TSS	Osteobl	bone
39	chr2:233561600-233563000	Active TSS	Esophagus	oesophagus
40	chr2:233561600-233563000	Active TSS	Sigmoid Colon	Sigmoid Colon
41	chr2:233561600-233563000	Active TSS	HSMM	muscle
42	chr2:233561600-233563200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:233561600-233563200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:233561600-233563200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr2:233561600-233563200	Active TSS	Ovary	ovary
46	chr2:233561600-233563200	Active TSS	HSMMtube	muscle
47	chr2:233561600-233563400	Active TSS	H9 Cell Line	embryonic stem cell
48	chr2:233561600-233563400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr2:233561600-233563400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:233561600-233563400	Active TSS	Right Atrium	heart

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