Variant report

Variant	rs12990770
Chromosome Location	chr2:10439540-10439541
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:10405314..10407272-chr2:10438185..10440055,2	K562	blood:
2	chr2:10438477..10441704-chr2:10442402..10444544,4	MCF-7	breast:
3	chr2:10423331..10426574-chr2:10438305..10440403,3	K562	blood:
4	chr2:10425416..10427502-chr2:10437383..10439645,2	K562	blood:
5	chr2:10409808..10412548-chr2:10436886..10439745,2	K562	blood:
6	chr2:10434745..10440361-chr2:10440769..10446494,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115756	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34175448	1.00[ASN][1000 genomes]
rs35888159	1.00[ASN][1000 genomes]
rs6714483	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6723733	0.84[AMR][1000 genomes]
rs71437701	1.00[ASN][1000 genomes]
rs71439004	1.00[ASN][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	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873639	chr2:10372061-10475308	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10435800-10441000	Weak transcription	Stomach Mucosa	stomach
2	chr2:10436000-10442000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr2:10436600-10442200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:10437400-10439600	Enhancers	Primary B cells from cord blood	blood
5	chr2:10437600-10440600	Enhancers	HepG2	liver
6	chr2:10437800-10441600	Weak transcription	Spleen	Spleen
7	chr2:10437800-10441800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:10438400-10439600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:10438400-10442000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr2:10438400-10442000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:10438600-10441000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr2:10438600-10441000	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr2:10438600-10441000	Weak transcription	Small Intestine	intestine
14	chr2:10438600-10441000	Weak transcription	Thymus	Thymus
15	chr2:10438600-10441200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr2:10438600-10441200	Weak transcription	Esophagus	oesophagus
17	chr2:10438600-10441400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:10438600-10441400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:10438600-10441400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr2:10438600-10441600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr2:10438600-10441800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:10438600-10441800	Weak transcription	Lung	lung
23	chr2:10438600-10442000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr2:10438600-10442000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr2:10438600-10442000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr2:10438600-10442000	Weak transcription	Adipose Nuclei	Adipose
27	chr2:10438600-10442000	Weak transcription	Dnd41	blood
28	chr2:10438600-10442200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:10438600-10442200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr2:10438600-10442200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:10438600-10442200	Weak transcription	Psoas Muscle	Psoas
32	chr2:10438600-10442200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr2:10438800-10440200	Weak transcription	Liver	Liver
34	chr2:10438800-10440400	Weak transcription	Primary T cells from cord blood	blood
35	chr2:10438800-10440400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:10438800-10440400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:10438800-10440600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr2:10438800-10440600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr2:10438800-10440600	Weak transcription	Fetal Thymus	thymus
40	chr2:10438800-10440800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:10438800-10440800	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr2:10438800-10440800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:10438800-10440800	Weak transcription	K562	blood
44	chr2:10438800-10441200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:10438800-10441400	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr2:10438800-10441400	Weak transcription	Placenta	Placenta
47	chr2:10438800-10441600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:10438800-10442000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:10438800-10442000	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:10438800-10442000	Weak transcription	Fetal Muscle Leg	muscle

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