Variant report

Variant	rs149965966
Chromosome Location	chr1:222802185-222802186
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	chr1:222801864..222803416-chr1:222815988..222818056,2	K562	blood:

Variant related genes	Relation type
ENSG00000154305	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999185	chr1:222500725-223278032	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv535304	chr1:222500725-223278032	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873205	chr1:222718718-222923351	Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	esv3351619	chr1:222801947-222802386	Strong transcription Weak transcription Genic enhancers	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	chr1:222792400-222816600	Weak transcription	Small Intestine	intestine
2	chr1:222792600-222802200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:222792600-222802200	Weak transcription	Aorta	Aorta
4	chr1:222792600-222816600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr1:222792600-222817000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:222793000-222802200	Weak transcription	HSMMtube	muscle
7	chr1:222793200-222802200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:222793200-222802200	Weak transcription	Fetal Intestine Small	intestine
9	chr1:222793200-222802200	Weak transcription	Right Ventricle	heart
10	chr1:222793200-222802800	Weak transcription	Gastric	stomach
11	chr1:222793200-222816600	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr1:222793200-222816600	Weak transcription	Hela-S3	cervix
13	chr1:222793600-222816600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr1:222794000-222806800	Strong transcription	Primary T cells from cord blood	blood
15	chr1:222794200-222802600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:222794200-222805000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:222794600-222803600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:222794600-222807200	Strong transcription	Fetal Thymus	thymus
19	chr1:222794600-222809800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr1:222794600-222810400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:222794600-222810400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr1:222794600-222813400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:222794600-222813600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:222794600-222814000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr1:222794600-222815000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:222794800-222803800	Strong transcription	Primary B cells from peripheral blood	blood
27	chr1:222794800-222804000	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr1:222794800-222813200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:222794800-222813600	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr1:222795200-222807000	Strong transcription	HepG2	liver
31	chr1:222795200-222807600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:222795200-222807600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr1:222795200-222807800	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:222795400-222806600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:222795400-222806800	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:222795400-222807200	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr1:222795400-222807600	Strong transcription	Primary T helper cells PMA-I stimulated	--
38	chr1:222795400-222810400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr1:222795400-222810600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
40	chr1:222795400-222810600	Strong transcription	Fetal Muscle Leg	muscle
41	chr1:222795400-222812000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:222795400-222813400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr1:222795600-222803000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr1:222795600-222804000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr1:222795600-222807200	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr1:222795600-222807200	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr1:222795600-222810600	Strong transcription	Cortex derived primary cultured neurospheres	brain
48	chr1:222795800-222802400	Weak transcription	Psoas Muscle	Psoas
49	chr1:222795800-222803200	Strong transcription	Brain Anterior Caudate	brain
50	chr1:222795800-222810600	Strong transcription	Adipose Nuclei	Adipose

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