Variant report

Variant	rs552344560
Chromosome Location	chr1:173693681-173693682
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173687895..173689585-chr1:173692482..173695234,2	MCF-7	breast:
2	chr1:173691682..173694241-chr1:173700147..173703100,2	K562	blood:
3	chr1:173693597..173695637-chr1:173710759..173712908,2	MCF-7	breast:
4	chr1:173684000..173686822-chr1:173693037..173695144,2	K562	blood:

Variant related genes	Relation type
ENSG00000225591	Chromatin interaction
ENSG00000076321	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active 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	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173684800-173695000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:173684800-173702800	Weak transcription	Spleen	Spleen
3	chr1:173685000-173695200	Weak transcription	Esophagus	oesophagus
4	chr1:173685000-173695200	Weak transcription	Pancreas	Pancrea
5	chr1:173685000-173720800	Weak transcription	Small Intestine	intestine
6	chr1:173685200-173694000	Weak transcription	Left Ventricle	heart
7	chr1:173685200-173694200	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:173685200-173694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr1:173685200-173694400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:173685200-173694400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:173685200-173694400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr1:173685200-173694400	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr1:173685200-173694600	Weak transcription	Colonic Mucosa	Colon
14	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:173685400-173694000	Weak transcription	Primary B cells from peripheral blood	blood
16	chr1:173685400-173694200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr1:173685400-173694400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr1:173685400-173694400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr1:173685400-173694400	Weak transcription	Fetal Brain Male	brain
20	chr1:173685400-173702800	Weak transcription	Psoas Muscle	Psoas
21	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr1:173685600-173693800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:173685600-173694200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr1:173685600-173694600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:173685600-173702800	Weak transcription	Brain Substantia Nigra	brain
26	chr1:173685800-173702800	Weak transcription	NH-A	brain
27	chr1:173685800-173703000	Weak transcription	Osteobl	bone
28	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:173686000-173693800	Weak transcription	HMEC	breast
30	chr1:173686200-173694400	Weak transcription	NHLF	lung
31	chr1:173686200-173702800	Weak transcription	NHEK	skin
32	chr1:173686400-173694200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:173686600-173702800	Weak transcription	HSMMtube	muscle
34	chr1:173686800-173693800	Weak transcription	Adipose Nuclei	Adipose
35	chr1:173686800-173694200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:173686800-173694200	Weak transcription	NHDF-Ad	bronchial
37	chr1:173686800-173694400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:173686800-173694400	Weak transcription	Fetal Heart	heart
39	chr1:173686800-173694400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:173686800-173694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr1:173686800-173702800	Weak transcription	Gastric	stomach
42	chr1:173686800-173703000	Weak transcription	Brain Angular Gyrus	brain
43	chr1:173686800-173721600	Weak transcription	HUVEC	blood vessel
44	chr1:173686800-173721800	Weak transcription	Colon Smooth Muscle	Colon
45	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
46	chr1:173687000-173694200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
47	chr1:173687000-173702800	Weak transcription	HepG2	liver
48	chr1:173687400-173694400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr1:173687600-173694400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr1:173687600-173694400	Weak transcription	Brain Anterior Caudate	brain

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