Variant report

Variant	rs2271813
Chromosome Location	chr2:152117957-152117958
allele	C/T
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152117804..152120182-chr2:152144785..152147621,2	MCF-7	breast:
2	chr2:150442857..150445501-chr2:152115437..152118070,2	MCF-7	breast:
3	chr2:152115426..152120009-chr2:152142898..152146726,5	K562	blood:
4	chr2:152116994..152118893-chr2:152266218..152268136,2	MCF-7	breast:
5	chr2:152116678..152120470-chr2:152265032..152268454,8	MCF-7	breast:
6	chr2:152116022..152119511-chr2:152263980..152267786,5	K562	blood:
7	chr2:152117446..152118302-chr8:97247298..97247872,2	HCT-116	colon:
8	chr2:152116868..152120610-chr2:152144685..152147660,4	MCF-7	breast:
9	chr2:152117778..152118631-chr7:26240204..26240803,2	NB4	blood:

No data

Variant related genes	Relation type
ENSG00000231969	Chromatin interaction
ENSG00000123609	Chromatin interaction
ENSG00000080345	Chromatin interaction
ENSG00000168288	Chromatin interaction
ENSG00000122565	Chromatin interaction
ENSG00000156467	Chromatin interaction
ENSG00000254224	Chromatin interaction
ENSG00000122566	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs59255371	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62167156	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62167158	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2271813	RBM43	cis	parietal	SCAN
rs2271813	RND3	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152116800-152118600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr2:152116800-152118600	Active TSS	Rectal Smooth Muscle	rectum
3	chr2:152116800-152118800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr2:152116800-152118800	Active TSS	Stomach Smooth Muscle	stomach
5	chr2:152117000-152118000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr2:152117000-152118000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:152117000-152118400	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr2:152117000-152118400	Active TSS	Monocytes-CD14+_RO01746	blood
9	chr2:152117000-152118600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:152117000-152118600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr2:152117000-152118600	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr2:152117000-152118600	Active TSS	Fetal Lung	lung
13	chr2:152117000-152118600	Active TSS	Fetal Muscle Leg	muscle
14	chr2:152117000-152118600	Active TSS	Fetal Stomach	stomach
15	chr2:152117000-152118600	Active TSS	A549	lung
16	chr2:152117000-152118600	Active TSS	NHDF-Ad	bronchial
17	chr2:152117000-152118600	Active TSS	NHLF	lung
18	chr2:152117000-152118800	Active TSS	Colon Smooth Muscle	Colon
19	chr2:152117000-152119000	Active TSS	Brain Anterior Caudate	brain
20	chr2:152117200-152118000	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:152117200-152118000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr2:152117200-152118000	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr2:152117200-152118000	Flanking Active TSS	NHEK	skin
24	chr2:152117200-152118400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr2:152117200-152118400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr2:152117200-152118400	Active TSS	HSMMtube	muscle
27	chr2:152117200-152118600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:152117200-152118600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr2:152117200-152118600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr2:152117200-152118600	Active TSS	Fetal Kidney	kidney
31	chr2:152117200-152118600	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr2:152117200-152118800	Active TSS	ES-I3 Cell Line	embryonic stem cell
33	chr2:152117200-152118800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:152117200-152118800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:152117200-152118800	Active TSS	Aorta	Aorta
36	chr2:152117200-152118800	Active TSS	Brain Hippocampus Middle	brain
37	chr2:152117200-152118800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
38	chr2:152117200-152118800	Active TSS	Fetal Intestine Large	intestine
39	chr2:152117200-152118800	Active TSS	Fetal Muscle Trunk	muscle
40	chr2:152117200-152118800	Active TSS	Ovary	ovary
41	chr2:152117200-152118800	Active TSS	Sigmoid Colon	Sigmoid Colon
42	chr2:152117200-152118800	Active TSS	Thymus	Thymus
43	chr2:152117200-152119000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr2:152117400-152118000	Flanking Active TSS	Fetal Brain Male	brain
45	chr2:152117400-152118000	Flanking Active TSS	Placenta	Placenta
46	chr2:152117400-152118400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:152117400-152118400	Active TSS	HUVEC	blood vessel
48	chr2:152117400-152118600	Active TSS	H9 Cell Line	embryonic stem cell
49	chr2:152117400-152118600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr2:152117400-152118600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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