Variant report

Variant	rs562227588
Chromosome Location	chr1:10639286-10639287
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:10622081..10624385-chr1:10637309..10640742,3	K562	blood:
2	chr1:10632331..10635200-chr1:10638262..10640541,2	K562	blood:
3	chr1:10638213..10640630-chr1:10641912..10644179,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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	nsv817370	chr1:10305470-10697150	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv1008021	chr1:10363794-10802633	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1015079	chr1:10611403-10645176	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1009596	chr1:10626249-10652605	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv517464	chr1:10638604-10643197	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv818777	chr1:10638604-10643197	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:10589400-10664800	Weak transcription	Aorta	Aorta
2	chr1:10591000-10639400	Weak transcription	Hela-S3	cervix
3	chr1:10602000-10639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:10603000-10659000	Weak transcription	Primary B cells from cord blood	blood
5	chr1:10605000-10659000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:10607600-10641400	Weak transcription	Lung	lung
7	chr1:10623600-10645600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:10624800-10646000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:10627800-10641000	Weak transcription	Fetal Stomach	stomach
10	chr1:10627800-10643000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr1:10628000-10640000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:10628000-10650200	Weak transcription	Fetal Lung	lung
13	chr1:10628400-10661600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:10628800-10651200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:10629800-10643600	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:10629800-10659000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr1:10631800-10659200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr1:10632600-10698000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:10635600-10639600	Weak transcription	Placenta	Placenta
20	chr1:10635800-10650800	Weak transcription	HSMMtube	muscle
21	chr1:10636000-10650600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:10636200-10655600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:10636200-10656000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:10636400-10656200	Weak transcription	NHEK	skin
25	chr1:10636600-10658000	Weak transcription	Spleen	Spleen
26	chr1:10636800-10639400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:10637000-10641600	Weak transcription	Adipose Nuclei	Adipose
28	chr1:10637400-10652200	Weak transcription	Fetal Intestine Small	intestine
29	chr1:10637400-10659000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:10638000-10639400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr1:10638000-10639600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr1:10638000-10640000	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr1:10638000-10640000	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr1:10638000-10640000	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr1:10638000-10640000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr1:10638200-10640000	Weak transcription	Colon Smooth Muscle	Colon
37	chr1:10638200-10640000	Weak transcription	Fetal Thymus	thymus
38	chr1:10638200-10642400	Weak transcription	Primary T cells from cord blood	blood
39	chr1:10638400-10645000	Weak transcription	Liver	Liver
40	chr1:10638400-10657400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:10638400-10661600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:10638600-10651600	Weak transcription	Left Ventricle	heart
43	chr1:10638600-10661600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr1:10638800-10644600	Weak transcription	HepG2	liver
45	chr1:10639000-10639800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:10639000-10639800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:10639000-10641200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:10639000-10643800	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr1:10639000-10651200	Weak transcription	HSMM	muscle
50	chr1:10639000-10652800	Weak transcription	H1 Cell Line	embryonic stem cell

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