Variant report

Variant	rs73924028
Chromosome Location	chr2:39696935-39696936
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:39694431..39697205-chr2:39730797..39733915,4	MCF-7	breast:
2	chr2:39678426..39680083-chr2:39696390..39697940,2	MCF-7	breast:
3	chr2:39692767..39694773-chr2:39696580..39698942,2	MCF-7	breast:
4	chr2:39662686..39670121-chr2:39690503..39697386,20	MCF-7	breast:
5	chr2:39694951..39697575-chr2:39697592..39700554,2	K562	blood:

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction
ENSG00000011566	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57381261	0.85[AFR][1000 genomes]
rs6742173	0.85[AMR][1000 genomes]
rs72932003	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs759459	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv833858	chr2:39684483-39856498	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39685200-39705000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
2	chr2:39688600-39703400	Weak transcription	Liver	Liver
3	chr2:39693000-39697000	Weak transcription	Lung	lung
4	chr2:39693200-39697200	Enhancers	Stomach Mucosa	stomach
5	chr2:39693800-39698000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:39694400-39697000	Enhancers	NHDF-Ad	bronchial
7	chr2:39694400-39697400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr2:39694400-39697400	Enhancers	Placenta	Placenta
9	chr2:39694400-39697600	Enhancers	GM12878-XiMat	blood
10	chr2:39694600-39697000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr2:39694600-39697200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:39694600-39697200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr2:39694600-39697200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr2:39694600-39697400	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr2:39694600-39697400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:39694600-39697400	Enhancers	Fetal Intestine Large	intestine
17	chr2:39694600-39697400	Enhancers	Ovary	ovary
18	chr2:39694600-39697400	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr2:39694600-39697400	Enhancers	Rectal Smooth Muscle	rectum
20	chr2:39694600-39697400	Enhancers	Right Atrium	heart
21	chr2:39694600-39697400	Enhancers	HSMM	muscle
22	chr2:39694600-39697600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:39694600-39698000	Enhancers	HUVEC	blood vessel
24	chr2:39694600-39698800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr2:39694600-39699000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:39694600-39699000	Enhancers	HSMMtube	muscle
27	chr2:39694800-39697000	Enhancers	Small Intestine	intestine
28	chr2:39694800-39697200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:39694800-39697200	Enhancers	Brain Angular Gyrus	brain
30	chr2:39694800-39697200	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:39694800-39697400	Enhancers	Colon Smooth Muscle	Colon
32	chr2:39694800-39698200	Enhancers	NH-A	brain
33	chr2:39694800-39699000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:39694800-39699200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr2:39695000-39697200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr2:39695000-39697400	Enhancers	K562	blood
37	chr2:39695000-39697600	Enhancers	iPS-20b Cell Line	embryonic stem cell
38	chr2:39695000-39698200	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr2:39695200-39697600	Enhancers	Fetal Muscle Leg	muscle
40	chr2:39695200-39698000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:39695200-39698200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:39695400-39697000	Weak transcription	Gastric	stomach
43	chr2:39695400-39698000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr2:39695400-39698200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:39695600-39697000	Weak transcription	Pancreas	Pancrea
46	chr2:39695600-39697200	Enhancers	Brain Hippocampus Middle	brain
47	chr2:39695600-39697400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:39695600-39697400	Enhancers	Fetal Stomach	stomach
49	chr2:39695600-39697400	Enhancers	Psoas Muscle	Psoas
50	chr2:39695800-39697200	Enhancers	Brain Anterior Caudate	brain

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