Variant report

Variant	rs4760326
Chromosome Location	chr12:58198084-58198085
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:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:58195714..58198546-chr12:58205658..58208467,2	K562	blood:
2	chr12:58193083..58195833-chr12:58196362..58200712,4	K562	blood:
3	chr12:58174276..58176764-chr12:58197954..58200651,2	K562	blood:
4	chr12:58197715..58199302-chr12:58209089..58212026,2	MCF-7	breast:
5	chr12:58196723..58199553-chr12:58199752..58203414,5	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-571M6.15.1-1	chr12:58197621-58198198	ENSG00000270039.1

No data

Variant related genes	Relation type
ENSG00000135407	Chromatin interaction
ENSG00000206749	Chromatin interaction
ENSG00000123297	Chromatin interaction
ENSG00000269903	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10877027	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12306667	1.00[ASW][hapmap];0.84[MEX][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs4760307	1.00[ASW][hapmap];0.86[MEX][hapmap]

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	nsv470297	chr12:58133256-58202419	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv559046	chr12:58162085-58478598	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	261 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58177400-58200400	Weak transcription	Fetal Heart	heart
2	chr12:58177400-58216400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:58177800-58198400	Strong transcription	Fetal Muscle Trunk	muscle
4	chr12:58177800-58198400	Strong transcription	Fetal Muscle Leg	muscle
5	chr12:58177800-58199000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:58178000-58198200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:58178000-58198200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:58178000-58198200	Strong transcription	Fetal Thymus	thymus
9	chr12:58178200-58198200	Strong transcription	Primary T cells fromperipheralblood	blood
10	chr12:58178600-58207600	Strong transcription	Liver	Liver
11	chr12:58179000-58198200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:58179200-58199000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr12:58181400-58216000	Weak transcription	Fetal Brain Male	brain
14	chr12:58183000-58198200	Strong transcription	Rectal Mucosa Donor 31	rectum
15	chr12:58185600-58198800	Strong transcription	Primary T cells from cord blood	blood
16	chr12:58186600-58198200	Strong transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:58187000-58216600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:58187200-58215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:58188600-58207800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:58189000-58208400	Strong transcription	Fetal Stomach	stomach
21	chr12:58189200-58207800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:58189400-58198200	Strong transcription	NHLF	lung
23	chr12:58189400-58207200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:58189600-58200200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:58189800-58198400	Strong transcription	NHDF-Ad	bronchial
26	chr12:58189800-58208400	Strong transcription	Placenta	Placenta
27	chr12:58190200-58216600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr12:58190400-58201000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr12:58190400-58208000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:58190800-58202400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:58190800-58215200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:58190800-58216200	Weak transcription	HUVEC	blood vessel
33	chr12:58191000-58201400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr12:58191000-58216400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr12:58191200-58201400	Weak transcription	HepG2	liver
36	chr12:58191200-58213600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:58191200-58216200	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr12:58191600-58204200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:58191800-58204200	Weak transcription	HMEC	breast
40	chr12:58191800-58208400	Weak transcription	Psoas Muscle	Psoas
41	chr12:58192000-58210600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr12:58192200-58198400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:58192200-58216200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr12:58192400-58205600	Strong transcription	Lung	lung
45	chr12:58192600-58199000	Strong transcription	NH-A	brain
46	chr12:58192800-58198400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:58193000-58210200	Strong transcription	Fetal Intestine Small	intestine
48	chr12:58193200-58200800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr12:58193200-58201600	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr12:58193200-58215000	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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