Variant report

Variant	rs6679127
Chromosome Location	chr1:173458828-173458829
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173457504..173459269-chr1:173764576..173766999,2	K562	blood:
2	chr1:173456168..173461242-chr1:173467676..173473413,6	K562	blood:
3	chr1:173457080..173459531-chr1:173825329..173828115,2	K562	blood:
4	chr1:173445279..173447565-chr1:173456877..173458938,2	MCF-7	breast:
5	chr1:173455943..173458874-chr1:173472089..173474445,2	MCF-7	breast:
6	chr1:173399963..173400909-chr1:173458192..173458927,2	MCF-7	breast:
7	chr1:173457707..173460161-chr1:173792574..173794967,2	K562	blood:
8	chr1:173454680..173459783-chr1:173793534..173797579,4	K562	blood:
9	chr1:173452597..173454697-chr1:173456877..173459634,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction
ENSG00000117592	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs35364344	1.00[AFR][1000 genomes]
rs35820016	1.00[AFR][1000 genomes]
rs6702828	1.00[AFR][1000 genomes]
rs7548415	1.00[AFR][1000 genomes]
rs7554520	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831915	chr1:173268424-173482157	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173448000-173477000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:173448600-173459800	Strong transcription	Fetal Muscle Trunk	muscle
3	chr1:173448800-173459400	Weak transcription	Stomach Mucosa	stomach
4	chr1:173448800-173460000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr1:173449000-173459400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:173449000-173459400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:173449200-173459600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr1:173449400-173459200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:173449600-173459200	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr1:173449600-173459400	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr1:173449600-173459400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr1:173449600-173459400	Strong transcription	HSMM	muscle
13	chr1:173449600-173459600	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:173449600-173460000	Strong transcription	A549	lung
15	chr1:173449800-173459000	Strong transcription	Fetal Muscle Leg	muscle
16	chr1:173449800-173459200	Strong transcription	Brain Hippocampus Middle	brain
17	chr1:173449800-173459400	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr1:173449800-173460000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:173450000-173459000	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr1:173450000-173459200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:173450000-173459800	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr1:173450000-173461800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:173450200-173459200	Strong transcription	Brain Germinal Matrix	brain
24	chr1:173450200-173459600	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr1:173450200-173459800	Strong transcription	Primary T cells from cord blood	blood
26	chr1:173450400-173459000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:173450400-173459000	Strong transcription	Brain Angular Gyrus	brain
28	chr1:173450400-173459400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:173450400-173459400	Strong transcription	Lung	lung
30	chr1:173450400-173459400	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr1:173450400-173459600	Strong transcription	Brain Anterior Caudate	brain
32	chr1:173450400-173459600	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr1:173450400-173460800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:173450800-173459200	Strong transcription	Adipose Nuclei	Adipose
35	chr1:173451000-173459800	Strong transcription	Left Ventricle	heart
36	chr1:173451000-173461800	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr1:173451000-173462200	Strong transcription	Liver	Liver
38	chr1:173451200-173460000	Weak transcription	Right Atrium	heart
39	chr1:173454200-173459000	Strong transcription	Fetal Stomach	stomach
40	chr1:173454200-173459400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr1:173454800-173459600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:173456000-173460600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr1:173456800-173464600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:173457000-173460000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr1:173457000-173460200	Weak transcription	Small Intestine	intestine
46	chr1:173457200-173460000	Weak transcription	Esophagus	oesophagus
47	chr1:173457200-173466200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:173457200-173466800	Weak transcription	Gastric	stomach
49	chr1:173457400-173460200	Weak transcription	GM12878-XiMat	blood
50	chr1:173457400-173460400	Weak transcription	NHEK	skin

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