Variant report

Variant	rs2541001
Chromosome Location	chr2:37294131-37294132
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37293488..37295304-chr2:37309858..37311799,2	MCF-7	breast:
2	chr2:37291968..37296809-chr2:37296827..37300511,4	K562	blood:

Variant related genes	Relation type
ENSG00000152133	Chromatin interaction
ENSG00000008869	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10176303	0.91[EUR][1000 genomes]
rs10188586	0.95[EUR][1000 genomes]
rs10191403	0.93[EUR][1000 genomes]
rs10194972	0.95[EUR][1000 genomes]
rs13398187	0.85[EUR][1000 genomes]
rs13425846	0.91[EUR][1000 genomes]
rs2706808	0.80[AFR][1000 genomes]
rs6718647	0.95[EUR][1000 genomes]
rs6732075	0.95[EUR][1000 genomes]
rs7596489	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
3	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
9	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:37272400-37306400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr2:37272600-37299400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr2:37272600-37309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:37274200-37308800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:37274400-37299200	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr2:37274400-37309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr2:37275000-37294800	Strong transcription	Duodenum Mucosa	Duodenum
18	chr2:37275200-37300200	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr2:37275200-37307000	Strong transcription	Adipose Nuclei	Adipose
20	chr2:37275400-37299400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:37275400-37309200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:37276400-37296800	Strong transcription	Osteobl	bone
23	chr2:37276800-37299400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:37277600-37299400	Strong transcription	Skeletal Muscle Female	skeletal muscle
25	chr2:37278000-37299600	Strong transcription	Liver	Liver
26	chr2:37278600-37297600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr2:37278600-37310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr2:37279200-37300200	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr2:37279200-37309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr2:37279400-37307600	Strong transcription	Fetal Intestine Large	intestine
31	chr2:37281800-37307200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:37282000-37308400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:37282800-37296600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr2:37284600-37307200	Weak transcription	Stomach Mucosa	stomach
35	chr2:37285600-37299800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr2:37285800-37299400	Strong transcription	Fetal Muscle Leg	muscle
37	chr2:37286800-37294800	Strong transcription	HSMM	muscle
38	chr2:37287000-37296400	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr2:37287000-37299400	Strong transcription	Brain Hippocampus Middle	brain
40	chr2:37287000-37305200	Strong transcription	Primary T cells from cord blood	blood
41	chr2:37287200-37294600	Strong transcription	Fetal Lung	lung
42	chr2:37287400-37309200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:37287600-37294800	Strong transcription	Primary hematopoietic stem cells	blood
44	chr2:37287600-37306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr2:37287600-37309600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:37287800-37294600	Strong transcription	Brain Cingulate Gyrus	brain
47	chr2:37287800-37295200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr2:37287800-37306600	Strong transcription	Primary B cells from cord blood	blood
49	chr2:37288200-37294800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
50	chr2:37288600-37298600	Strong transcription	GM12878-XiMat	blood

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