Variant report

Variant	rs190412633
Chromosome Location	chr1:165602719-165602720
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165600483..165602839-chr1:165648702..165651325,2	K562	blood:
2	chr1:165598732..165600312-chr1:165601060..165603402,2	MCF-7	breast:
3	chr1:165601421..165603432-chr1:165737509..165739117,2	K562	blood:
4	chr1:165600033..165602839-chr1:165649825..165652028,2	K562	blood:

Variant related genes	Relation type
ENSG00000143198	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000224358	Chromatin interaction
ENSG00000143149	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548090	chr1:165602524-165604991	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165599200-165603400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:165599400-165602800	Active TSS	Left Ventricle	heart
3	chr1:165599400-165602800	Active TSS	Psoas Muscle	Psoas
4	chr1:165599400-165603000	Active TSS	Aorta	Aorta
5	chr1:165599400-165603000	Active TSS	Brain Cingulate Gyrus	brain
6	chr1:165599400-165603200	Active TSS	Right Atrium	heart
7	chr1:165601400-165603000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
8	chr1:165601400-165603000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
9	chr1:165601400-165603200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:165601400-165603200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr1:165601400-165603200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr1:165601400-165603800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr1:165601400-165604400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr1:165601600-165602800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:165601600-165602800	Enhancers	Liver	Liver
16	chr1:165601600-165603400	Weak transcription	Gastric	stomach
17	chr1:165601600-165603600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:165601600-165603600	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:165601600-165603600	Enhancers	Pancreas	Pancrea
20	chr1:165601600-165604400	Weak transcription	Primary T cells from cord blood	blood
21	chr1:165601600-165605800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:165601600-165608400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:165601600-165615200	Weak transcription	Spleen	Spleen
24	chr1:165601800-165602800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr1:165601800-165602800	Weak transcription	Lung	lung
26	chr1:165601800-165603000	Enhancers	HSMMtube	muscle
27	chr1:165601800-165603200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr1:165601800-165603200	Weak transcription	Fetal Kidney	kidney
29	chr1:165601800-165603400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr1:165601800-165603600	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr1:165601800-165603600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:165601800-165603600	Enhancers	HSMM	muscle
33	chr1:165601800-165603800	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr1:165601800-165607400	Enhancers	Brain Substantia Nigra	brain
35	chr1:165601800-165615200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr1:165602000-165603400	Enhancers	Stomach Mucosa	stomach
37	chr1:165602000-165603600	Enhancers	Hela-S3	cervix
38	chr1:165602000-165604200	Weak transcription	Primary B cells from peripheral blood	blood
39	chr1:165602000-165604400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr1:165602000-165605600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:165602000-165622800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:165602200-165602800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:165602200-165602800	Enhancers	Colonic Mucosa	Colon
44	chr1:165602200-165602800	Weak transcription	Esophagus	oesophagus
45	chr1:165602200-165602800	Weak transcription	Small Intestine	intestine
46	chr1:165602200-165602800	Enhancers	Osteobl	bone
47	chr1:165602200-165603000	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr1:165602200-165603400	Enhancers	HUVEC	blood vessel
49	chr1:165602200-165603600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr1:165602200-165603600	Enhancers	Primary monocytes fromperipheralblood	blood

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