Variant report

Variant	rs531377008
Chromosome Location	chr1:180842123-180842124
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180840487..180842982-chr1:181055524..181058293,2	K562	blood:

Variant related genes	Relation type
ENSG00000162783	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	nsv872578	chr1:180510771-180842344	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv3380465	chr1:180838779-180842477	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180773400-180849200	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:180773800-180853200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:180779800-180850800	Weak transcription	Small Intestine	intestine
4	chr1:180796400-180851000	Weak transcription	Fetal Intestine Small	intestine
5	chr1:180803600-180843200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr1:180804800-180842800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
8	chr1:180812200-180867000	Weak transcription	Ovary	ovary
9	chr1:180819200-180851000	Weak transcription	Fetal Brain Male	brain
10	chr1:180821200-180842200	Weak transcription	Primary B cells from cord blood	blood
11	chr1:180822000-180842200	Weak transcription	Primary B cells from peripheral blood	blood
12	chr1:180822000-180862800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr1:180822800-180862800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr1:180823000-180854600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:180823400-180843000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr1:180823600-180847800	Weak transcription	Primary T cells from cord blood	blood
17	chr1:180823600-180860000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr1:180823800-180851000	Weak transcription	Fetal Kidney	kidney
19	chr1:180823800-180851400	Weak transcription	Pancreas	Pancrea
20	chr1:180823800-180862600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:180824000-180848000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:180824000-180867600	Weak transcription	Fetal Muscle Leg	muscle
23	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart
24	chr1:180824200-180851000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr1:180827800-180856600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr1:180828000-180852400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:180828000-180853200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr1:180828000-180853200	Weak transcription	NHEK	skin
29	chr1:180828600-180867800	Weak transcription	HSMM	muscle
30	chr1:180828800-180851000	Weak transcription	Brain Germinal Matrix	brain
31	chr1:180830000-180867600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr1:180831000-180851400	Weak transcription	Fetal Thymus	thymus
33	chr1:180831200-180858600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:180831600-180847800	Weak transcription	Fetal Brain Female	brain
35	chr1:180831600-180851000	Weak transcription	Brain Angular Gyrus	brain
36	chr1:180831600-180852600	Weak transcription	Fetal Lung	lung
37	chr1:180832200-180848600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr1:180832400-180842600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:180832400-180842600	Weak transcription	A549	lung
40	chr1:180832400-180844400	Weak transcription	HUVEC	blood vessel
41	chr1:180832400-180848000	Weak transcription	Fetal Heart	heart
42	chr1:180832400-180850000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:180832400-180850000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr1:180832400-180850800	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:180832400-180850800	Weak transcription	NH-A	brain
46	chr1:180832400-180851000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:180832400-180851000	Weak transcription	Brain Anterior Caudate	brain
48	chr1:180832400-180853200	Weak transcription	Fetal Stomach	stomach
49	chr1:180832600-180854400	Weak transcription	Liver	Liver
50	chr1:180832800-180861800	Weak transcription	HepG2	liver

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