Variant report

Variant	rs34136171
Chromosome Location	chr2:48602186-48602187
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:48601929..48604341-chr2:48608996..48611918,2	MCF-7	breast:
2	chr2:48568069..48570400-chr2:48600787..48602390,2	K562	blood:
3	chr2:48592285..48594588-chr2:48601399..48603499,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17037271	0.83[EUR][1000 genomes]
rs28399967	0.85[EUR][1000 genomes]
rs28439229	0.85[EUR][1000 genomes]
rs28485447	0.85[EUR][1000 genomes]
rs28570232	0.85[EUR][1000 genomes]
rs28595126	0.85[EUR][1000 genomes]
rs56879885	0.85[EUR][1000 genomes]
rs60743061	0.85[EUR][1000 genomes]
rs6545031	0.85[EUR][1000 genomes]
rs6545033	0.85[EUR][1000 genomes]
rs6737455	0.85[EUR][1000 genomes]
rs72887650	0.87[EUR][1000 genomes]
rs72887686	0.85[EUR][1000 genomes]
rs7576648	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv874001	chr2:48534363-48624007	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv874002	chr2:48547751-48610367	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv2762252	chr2:48554150-48741093	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874003	chr2:48570509-48619869	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34136171	CCDC128	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48571200-48605200	Weak transcription	Colonic Mucosa	Colon
2	chr2:48573600-48604000	Weak transcription	Ovary	ovary
3	chr2:48577800-48603800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr2:48578600-48604800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:48580800-48604000	Weak transcription	Aorta	Aorta
6	chr2:48581400-48608000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr2:48581800-48604800	Weak transcription	Psoas Muscle	Psoas
8	chr2:48584800-48604400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:48589400-48607400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:48590000-48607400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr2:48591600-48605000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr2:48592800-48605400	Strong transcription	HepG2	liver
13	chr2:48594000-48602200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr2:48595200-48609200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr2:48595800-48605000	Weak transcription	Fetal Brain Male	brain
16	chr2:48597400-48602200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:48597400-48608000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:48597600-48602200	Weak transcription	Fetal Muscle Leg	muscle
19	chr2:48597800-48609400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr2:48598200-48602200	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr2:48598600-48607400	Weak transcription	Fetal Brain Female	brain
22	chr2:48598600-48609000	Weak transcription	Fetal Intestine Small	intestine
23	chr2:48598600-48612800	Weak transcription	Fetal Stomach	stomach
24	chr2:48598800-48605400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr2:48598800-48605400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:48599000-48605800	Strong transcription	Dnd41	blood
27	chr2:48599200-48604200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:48599400-48603600	Strong transcription	K562	blood
29	chr2:48599400-48604000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:48599400-48608000	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr2:48599600-48607800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:48599800-48602600	Strong transcription	NHEK	skin
33	chr2:48599800-48606400	Strong transcription	HSMM	muscle
34	chr2:48599800-48607000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:48600000-48605200	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:48600000-48606000	Strong transcription	NHDF-Ad	bronchial
37	chr2:48600000-48607400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:48600000-48607400	Strong transcription	Primary T helper cells PMA-I stimulated	--
39	chr2:48600000-48608000	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr2:48600200-48605800	Strong transcription	Adipose Nuclei	Adipose
41	chr2:48600400-48604000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr2:48600400-48605200	Strong transcription	HUES48 Cell Line	embryonic stem cell
43	chr2:48600400-48605200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:48600400-48605600	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr2:48600400-48607200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr2:48600400-48607400	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr2:48600400-48607400	Strong transcription	A549	lung
48	chr2:48600400-48607600	Strong transcription	GM12878-XiMat	blood
49	chr2:48600600-48604000	Strong transcription	HUVEC	blood vessel
50	chr2:48600600-48605400	Strong transcription	iPS-20b Cell Line	embryonic stem cell

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