Variant report

Variant	rs4150443
Chromosome Location	chr2:128040371-128040372
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:128039289..128042277-chr2:128174042..128176143,2	MCF-7	breast:
2	chr2:128038888..128041101-chr2:128056617..128059241,2	MCF-7	breast:
3	chr2:128037561..128040867-chr2:128048867..128051687,3	MCF-7	breast:
4	chr2:128038007..128040599-chr2:128076741..128078946,2	K562	blood:
5	chr2:128036353..128038060-chr2:128038149..128041333,3	MCF-7	breast:
6	chr2:128039935..128041904-chr2:128051632..128053435,2	MCF-7	breast:
7	chr2:128032489..128035732-chr2:128036718..128040797,5	K562	blood:

Variant related genes	Relation type
ENSG00000115718	Chromatin interaction
ENSG00000163161	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11677990	1.00[AMR][1000 genomes]
rs2069905	1.00[YRI][hapmap]
rs4150409	0.85[AFR][1000 genomes]
rs4150483	1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs4150485	1.00[YRI][hapmap];0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:128014000-128041000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:128014600-128041000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:128021200-128050000	Strong transcription	Fetal Stomach	stomach
4	chr2:128023200-128041000	Strong transcription	Fetal Muscle Trunk	muscle
5	chr2:128023400-128050400	Strong transcription	Liver	Liver
6	chr2:128024000-128040800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr2:128024200-128040800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
8	chr2:128024200-128050600	Strong transcription	Fetal Intestine Large	intestine
9	chr2:128024400-128040800	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:128024400-128041000	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr2:128024400-128041000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:128024400-128041000	Strong transcription	Fetal Muscle Leg	muscle
13	chr2:128024400-128049600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr2:128024400-128049800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr2:128024400-128050000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:128024400-128050200	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:128024400-128050200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:128024400-128050200	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr2:128024400-128050400	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:128024400-128050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:128024400-128050400	Strong transcription	Thymus	Thymus
22	chr2:128024400-128050800	Strong transcription	Fetal Thymus	thymus
23	chr2:128024600-128040400	Strong transcription	NH-A	brain
24	chr2:128024600-128040800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr2:128024600-128040800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:128024600-128040800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:128024600-128041000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:128024600-128041000	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr2:128024600-128041000	Strong transcription	Fetal Brain Female	brain
30	chr2:128024600-128041000	Strong transcription	A549	lung
31	chr2:128024600-128041200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:128024600-128049200	Strong transcription	Dnd41	blood
33	chr2:128024600-128049600	Strong transcription	Primary T cells from cord blood	blood
34	chr2:128024600-128050000	Strong transcription	HepG2	liver
35	chr2:128024600-128050200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr2:128024600-128050200	Strong transcription	Adipose Nuclei	Adipose
37	chr2:128024800-128040400	Strong transcription	Primary hematopoietic stem cells	blood
38	chr2:128024800-128041000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:128024800-128041200	Strong transcription	HMEC	breast
40	chr2:128024800-128044200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr2:128024800-128050000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr2:128024800-128050200	Strong transcription	Brain Anterior Caudate	brain
43	chr2:128024800-128050200	Strong transcription	Brain Hippocampus Middle	brain
44	chr2:128024800-128050200	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr2:128024800-128050200	Strong transcription	Stomach Smooth Muscle	stomach
46	chr2:128024800-128050400	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr2:128024800-128050400	Strong transcription	Osteobl	bone
48	chr2:128025000-128041400	Strong transcription	Brain Germinal Matrix	brain
49	chr2:128025000-128050600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:128025200-128041200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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