Variant report

Variant	rs4150488
Chromosome Location	chr2:128030174-128030175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:128023731..128026474-chr2:128028520..128030504,2	K562	blood:
2	chr2:128028882..128030644-chr2:128045597..128047110,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs56252976	1.00[AFR][1000 genomes]
rs7561028	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006112	chr2:127830117-128032546	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
2	nsv999809	chr2:127841930-128032546	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1010669	chr2:127848860-128032546	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1003599	chr2:127871183-128059407	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv535920	chr2:127871183-128059407	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	esv2762811	chr2:128029503-128030879	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128013600-128036200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:128014000-128041000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:128014600-128041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:128021200-128050000	Strong transcription	Fetal Stomach	stomach
5	chr2:128023200-128036200	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:128023200-128041000	Strong transcription	Fetal Muscle Trunk	muscle
7	chr2:128023400-128050400	Strong transcription	Liver	Liver
8	chr2:128023800-128039400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr2:128024000-128040800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:128024200-128032800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:128024200-128036200	Strong transcription	Placenta	Placenta
12	chr2:128024200-128036200	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:128024200-128038200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:128024200-128040800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr2:128024200-128050600	Strong transcription	Fetal Intestine Large	intestine
16	chr2:128024400-128032600	Strong transcription	HSMMtube	muscle
17	chr2:128024400-128036200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:128024400-128038400	Strong transcription	Ovary	ovary
19	chr2:128024400-128040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:128024400-128041000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr2:128024400-128041000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:128024400-128041000	Strong transcription	Fetal Muscle Leg	muscle
23	chr2:128024400-128049600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr2:128024400-128049800	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:128024400-128050000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:128024400-128050200	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr2:128024400-128050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr2:128024400-128050200	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:128024400-128050400	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr2:128024400-128050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr2:128024400-128050400	Strong transcription	Thymus	Thymus
32	chr2:128024400-128050800	Strong transcription	Fetal Thymus	thymus
33	chr2:128024600-128031000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:128024600-128033600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:128024600-128033600	Strong transcription	Colon Smooth Muscle	Colon
36	chr2:128024600-128034000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:128024600-128036200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:128024600-128038200	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr2:128024600-128038600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr2:128024600-128039800	Strong transcription	Duodenum Smooth Muscle	Duodenum
41	chr2:128024600-128040400	Strong transcription	NH-A	brain
42	chr2:128024600-128040800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr2:128024600-128040800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:128024600-128040800	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr2:128024600-128041000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr2:128024600-128041000	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr2:128024600-128041000	Strong transcription	Fetal Brain Female	brain
48	chr2:128024600-128041000	Strong transcription	A549	lung
49	chr2:128024600-128041200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:128024600-128049200	Strong transcription	Dnd41	blood

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