Variant report

Variant	rs540844175
Chromosome Location	chr1:225632132-225632133
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:225614179..225618111-chr1:225627420..225635153,13	K562	blood:
2	chr1:225609559..225620018-chr1:225630046..225635440,23	K562	blood:
3	chr1:225631906..225634098-chr1:225666664..225668819,2	K562	blood:
4	chr1:225611259..225613937-chr1:225629471..225632737,4	K562	blood:
5	chr1:225629716..225632443-chr1:225636032..225637800,2	MCF-7	breast:
6	chr1:225620797..225622369-chr1:225629538..225632219,2	K562	blood:
7	chr1:225629715..225632156-chr1:225633081..225634899,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv1004851	chr1:225614140-225684184	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	esv34905	chr1:225631404-225676582	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225625400-225636000	Enhancers	Colon Smooth Muscle	Colon
2	chr1:225626000-225636200	Enhancers	Fetal Intestine Large	intestine
3	chr1:225627600-225632400	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr1:225627800-225632400	Enhancers	Stomach Smooth Muscle	stomach
5	chr1:225628000-225632400	Enhancers	Fetal Thymus	thymus
6	chr1:225628800-225632400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr1:225628800-225632400	Enhancers	K562	blood
8	chr1:225628800-225633000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr1:225629000-225632200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr1:225629000-225632400	Enhancers	Primary B cells from cord blood	blood
11	chr1:225629000-225632400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr1:225629000-225632400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:225629200-225632400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr1:225629200-225632600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:225629200-225633000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:225629200-225636400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr1:225629400-225632400	Enhancers	Primary B cells from peripheral blood	blood
18	chr1:225629400-225635600	Enhancers	Primary hematopoietic stem cells	blood
19	chr1:225629400-225635600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:225629600-225634000	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr1:225629600-225634200	Enhancers	Spleen	Spleen
22	chr1:225629800-225632200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:225629800-225632400	Enhancers	Adipose Nuclei	Adipose
24	chr1:225629800-225634800	Enhancers	HUVEC	blood vessel
25	chr1:225630000-225632200	Enhancers	Left Ventricle	heart
26	chr1:225630000-225632400	Enhancers	Primary T cells from cord blood	blood
27	chr1:225630000-225632400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr1:225630000-225632400	Enhancers	Thymus	Thymus
29	chr1:225630000-225632600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr1:225630200-225632200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:225630200-225632400	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr1:225630200-225632400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:225630200-225632400	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:225630200-225632400	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr1:225630200-225632400	Enhancers	GM12878-XiMat	blood
36	chr1:225630200-225633200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:225630200-225633400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr1:225630200-225634600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr1:225630200-225635200	Enhancers	Liver	Liver
40	chr1:225630200-225636400	Enhancers	Fetal Intestine Small	intestine
41	chr1:225630400-225632400	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr1:225630600-225632400	Enhancers	Hela-S3	cervix
43	chr1:225630800-225633800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:225630800-225636600	Enhancers	Fetal Muscle Leg	muscle
45	chr1:225631000-225632600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:225631000-225633200	Weak transcription	Lung	lung
47	chr1:225631000-225634400	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:225631200-225632400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:225631200-225632600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:225631200-225632600	Weak transcription	A549	lung

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