Variant report

Variant	rs4144795
Chromosome Location	chr2:233562731-233562732
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233562305..233563943-chr2:233565378..233568018,2	MCF-7	breast:
2	chr2:233414179..233416741-chr2:233562276..233564348,2	K562	blood:
3	chr2:233562621..233564788-chr2:233579280..233582063,2	K562	blood:
4	chr2:233562031..233562988-chr6:76458771..76459462,2	Hela-S3	cervix:
5	chr2:233542760..233544687-chr2:233561332..233564273,2	K562	blood:
6	chr2:233561154..233564737-chr2:233566503..233568685,5	K562	blood:
7	chr2:233496783..233498486-chr2:233560263..233562772,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196586	Chromatin interaction
ENSG00000266620	Chromatin interaction
ENSG00000135930	Chromatin interaction
ENSG00000221944	Chromatin interaction
ENSG00000115468	Chromatin interaction
ENSG00000204120	Chromatin interaction
ENSG00000239170	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1022329	0.82[EUR][1000 genomes]
rs10427328	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1078323	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10933406	0.83[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs1104764	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11688166	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11689851	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105766	0.81[EUR][1000 genomes]
rs12993791	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13001052	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13021823	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17164	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2344611	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2344613	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2592104	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs283465	0.83[EUR][1000 genomes]
rs283467	0.84[EUR][1000 genomes]
rs283487	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34707169	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35491427	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4144797	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62193269	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62193271	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704763	0.82[EUR][1000 genomes]
rs6710294	0.83[EUR][1000 genomes]
rs6716488	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6717048	0.83[EUR][1000 genomes]
rs6733495	0.81[EUR][1000 genomes]
rs6739794	0.84[EUR][1000 genomes]
rs921055	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs974321	0.91[EUR][1000 genomes];0.89[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

No data

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	chr2:233561400-233562800	Active TSS	Primary T helper cells PMA-I stimulated	--
3	chr2:233561400-233562800	Active TSS	Primary T killer memory cells from peripheral blood	blood
4	chr2:233561400-233562800	Active TSS	Brain Anterior Caudate	brain
5	chr2:233561400-233562800	Active TSS	Brain Germinal Matrix	brain
6	chr2:233561400-233562800	Active TSS	Brain Hippocampus Middle	brain
7	chr2:233561400-233562800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr2:233561400-233562800	Active TSS	Fetal Brain Male	brain
9	chr2:233561400-233562800	Active TSS	Fetal Brain Female	brain
10	chr2:233561400-233563000	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:233561400-233563000	Active TSS	Colon Smooth Muscle	Colon
12	chr2:233561400-233563000	Active TSS	Left Ventricle	heart
13	chr2:233561400-233563000	Active TSS	NH-A	brain
14	chr2:233561400-233563200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:233561400-233563200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:233561400-233563200	Active TSS	Fetal Intestine Large	intestine
17	chr2:233561400-233563200	Active TSS	Fetal Muscle Trunk	muscle
18	chr2:233561400-233563400	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:233561400-233563400	Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr2:233561400-233563800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:233561400-233563800	Active TSS	Psoas Muscle	Psoas
22	chr2:233561600-233562800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr2:233561600-233562800	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr2:233561600-233562800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:233561600-233562800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr2:233561600-233562800	Active TSS	Brain Cingulate Gyrus	brain
27	chr2:233561600-233562800	Active TSS	Brain Inferior Temporal Lobe	brain
28	chr2:233561600-233562800	Active TSS	Brain Substantia Nigra	brain
29	chr2:233561600-233562800	Active TSS	Rectal Smooth Muscle	rectum
30	chr2:233561600-233562800	Active TSS	Osteobl	bone
31	chr2:233561600-233563000	Active TSS	Esophagus	oesophagus
32	chr2:233561600-233563000	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr2:233561600-233563000	Active TSS	HSMM	muscle
34	chr2:233561600-233563200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:233561600-233563200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:233561600-233563200	Active TSS	Pancreatic Islets	Pancreatic Islet
37	chr2:233561600-233563200	Active TSS	Ovary	ovary
38	chr2:233561600-233563200	Active TSS	HSMMtube	muscle
39	chr2:233561600-233563400	Active TSS	H9 Cell Line	embryonic stem cell
40	chr2:233561600-233563400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:233561600-233563400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:233561600-233563400	Active TSS	Right Atrium	heart
43	chr2:233561600-233563400	Active TSS	NHDF-Ad	bronchial
44	chr2:233561600-233563600	Active TSS	Lung	lung
45	chr2:233561600-233563800	Active TSS	Pancreas	Pancrea
46	chr2:233561600-233563800	Active TSS	Right Ventricle	heart
47	chr2:233561800-233562800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:233561800-233562800	Active TSS	Duodenum Mucosa	Duodenum
49	chr2:233561800-233562800	Active TSS	Fetal Lung	lung
50	chr2:233561800-233562800	Active TSS	Rectal Mucosa Donor 31	rectum

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