Variant report

Variant	rs550935868
Chromosome Location	chr2:39654920-39654921
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:39654384..39656809-chr2:39659803..39661309,2	MCF-7	breast:
2	chr2:39653965..39656375-chr2:39663851..39666207,4	K562	blood:
3	chr2:39654637..39656374-chr2:39657864..39660833,3	K562	blood:
4	chr2:39647976..39656890-chr2:39661783..39666548,15	MCF-7	breast:
5	chr2:39652432..39656926-chr2:39657241..39661273,4	MCF-7	breast:
6	chr2:39653934..39656533-chr2:39662404..39664415,2	K562	blood:
7	chr2:39652451..39655493-chr2:39655687..39657617,3	K562	blood:
8	chr2:39654727..39657322-chr2:39662344..39664931,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231312	Chromatin interaction
ENSG00000011566	Chromatin interaction

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

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	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	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
4	nsv2695	chr2:39643221-39688015	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv2442819	chr2:39654799-39656302	Enhancers Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39637200-39659000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr2:39639200-39658000	Weak transcription	Fetal Stomach	stomach
3	chr2:39639600-39657200	Weak transcription	HMEC	breast
4	chr2:39640800-39656800	Weak transcription	NH-A	brain
5	chr2:39640800-39660000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr2:39641000-39656600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:39641200-39659600	Weak transcription	Brain Angular Gyrus	brain
8	chr2:39644200-39661600	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:39645000-39658800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:39645200-39658200	Weak transcription	Right Ventricle	heart
11	chr2:39646000-39660200	Weak transcription	Fetal Intestine Small	intestine
12	chr2:39646200-39656200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:39646200-39658000	Weak transcription	Liver	Liver
14	chr2:39647000-39657400	Weak transcription	Adipose Nuclei	Adipose
15	chr2:39647200-39658400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr2:39647200-39659000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr2:39647400-39656600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:39647400-39657800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:39647400-39658400	Weak transcription	Small Intestine	intestine
20	chr2:39647400-39658600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr2:39647800-39660200	Weak transcription	Pancreas	Pancrea
22	chr2:39648400-39658200	Weak transcription	Aorta	Aorta
23	chr2:39649800-39659200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr2:39650000-39658600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:39650200-39655200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:39650200-39655200	Enhancers	HepG2	liver
27	chr2:39650400-39655400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr2:39650600-39656600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:39651400-39655200	Enhancers	Dnd41	blood
30	chr2:39651600-39655000	Enhancers	A549	lung
31	chr2:39651600-39655600	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr2:39651800-39658000	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:39652000-39655200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr2:39652000-39656600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr2:39652000-39658000	Weak transcription	Stomach Smooth Muscle	stomach
36	chr2:39652000-39658600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:39652000-39662400	Weak transcription	Esophagus	oesophagus
38	chr2:39652000-39662400	Weak transcription	Lung	lung
39	chr2:39652200-39658000	Weak transcription	GM12878-XiMat	blood
40	chr2:39652400-39661200	Weak transcription	HUVEC	blood vessel
41	chr2:39652600-39655000	Enhancers	Fetal Heart	heart
42	chr2:39652800-39655000	Weak transcription	Psoas Muscle	Psoas
43	chr2:39652800-39656600	Weak transcription	Osteobl	bone
44	chr2:39652800-39657000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:39652800-39657800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:39652800-39658000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:39652800-39658200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr2:39652800-39658200	Weak transcription	Hela-S3	cervix
49	chr2:39652800-39658600	Weak transcription	Left Ventricle	heart
50	chr2:39652800-39658600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links