Variant report

Variant	rs528315171
Chromosome Location	chr1:173694356-173694357
allele	A/C
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	chr1:173693597..173695637-chr1:173710759..173712908,2	MCF-7	breast:
3	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:118 , 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	chr1:173685200-173694400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr1:173685200-173694400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr1:173685200-173694400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr1:173685200-173694400	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:173685200-173694400	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:173685200-173694600	Weak transcription	Colonic Mucosa	Colon
12	chr1:173685200-173724600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:173685400-173694400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:173685400-173694400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:173685400-173694400	Weak transcription	Fetal Brain Male	brain
16	chr1:173685400-173702800	Weak transcription	Psoas Muscle	Psoas
17	chr1:173685400-173725000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:173685600-173694600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr1:173685600-173702800	Weak transcription	Brain Substantia Nigra	brain
20	chr1:173685800-173702800	Weak transcription	NH-A	brain
21	chr1:173685800-173703000	Weak transcription	Osteobl	bone
22	chr1:173685800-173724800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:173686200-173694400	Weak transcription	NHLF	lung
24	chr1:173686200-173702800	Weak transcription	NHEK	skin
25	chr1:173686600-173702800	Weak transcription	HSMMtube	muscle
26	chr1:173686800-173694400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr1:173686800-173694400	Weak transcription	Fetal Heart	heart
28	chr1:173686800-173694400	Weak transcription	Rectal Smooth Muscle	rectum
29	chr1:173686800-173694400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr1:173686800-173702800	Weak transcription	Gastric	stomach
31	chr1:173686800-173703000	Weak transcription	Brain Angular Gyrus	brain
32	chr1:173686800-173721600	Weak transcription	HUVEC	blood vessel
33	chr1:173686800-173721800	Weak transcription	Colon Smooth Muscle	Colon
34	chr1:173686800-173725400	Weak transcription	Right Ventricle	heart
35	chr1:173687000-173702800	Weak transcription	HepG2	liver
36	chr1:173687400-173694400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr1:173687600-173694400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr1:173687600-173694400	Weak transcription	Brain Anterior Caudate	brain
39	chr1:173687600-173706600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr1:173687800-173694800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:173687800-173702200	Weak transcription	Lung	lung
42	chr1:173687800-173707200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:173688400-173694400	Weak transcription	HSMM	muscle
44	chr1:173688800-173694400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:173689800-173695800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:173689800-173695800	ZNF genes & repeats	Brain Germinal Matrix	brain
47	chr1:173690600-173694400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:173690600-173694400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr1:173690600-173695600	ZNF genes & repeats	Fetal Brain Female	brain
50	chr1:173690600-173696200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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