Variant report

Variant	rs116335643
Chromosome Location	chr2:187409293-187409294
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	chr2:187406067..187412442-chr2:187438004..187442761,8	MCF-7	breast:
2	chr2:187405383..187412410-chr2:187452886..187457882,13	MCF-7	breast:
3	chr2:187406917..187410917-chr2:187453199..187456715,8	MCF-7	breast:
4	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
5	chr2:187408692..187413087-chr2:187413826..187419706,7	MCF-7	breast:
6	chr2:187408487..187411855-chr2:187414594..187417273,4	K562	blood:
7	chr2:187408437..187410562-chr2:187417781..187420649,2	K562	blood:
8	chr2:187407559..187410721-chr2:187423895..187426771,4	MCF-7	breast:
9	chr2:187402678..187406003-chr2:187406962..187409944,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv962124	chr2:187409210-187423691	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187405200-187411800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:187406000-187410000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:187406600-187412000	Enhancers	HMEC	breast
4	chr2:187407000-187410000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:187407800-187410800	Enhancers	Stomach Mucosa	stomach
6	chr2:187407800-187411000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:187408200-187409400	Enhancers	NHLF	lung
8	chr2:187408200-187409600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr2:187408200-187409600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr2:187408200-187409600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
11	chr2:187408200-187409600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:187408200-187409600	Enhancers	Colon Smooth Muscle	Colon
13	chr2:187408200-187409800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr2:187408200-187412000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr2:187408200-187412200	Enhancers	Hela-S3	cervix
16	chr2:187408400-187409600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:187408400-187410600	Weak transcription	Placenta	Placenta
18	chr2:187408400-187411400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr2:187408400-187411400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr2:187408400-187411600	Enhancers	HUES64 Cell Line	embryonic stem cell
21	chr2:187408400-187412000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr2:187408600-187409400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:187408600-187409400	Enhancers	Fetal Stomach	stomach
24	chr2:187408600-187409400	Enhancers	Stomach Smooth Muscle	stomach
25	chr2:187408600-187409400	Flanking Active TSS	NHDF-Ad	bronchial
26	chr2:187408600-187409600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr2:187408600-187409600	Enhancers	Fetal Heart	heart
28	chr2:187408600-187409600	Flanking Active TSS	NHEK	skin
29	chr2:187408600-187409800	Enhancers	Rectal Smooth Muscle	rectum
30	chr2:187408600-187411000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr2:187408600-187411400	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr2:187408800-187409400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr2:187408800-187409400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr2:187408800-187409400	Enhancers	Fetal Lung	lung
35	chr2:187408800-187409600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr2:187408800-187409600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:187408800-187409600	Enhancers	Fetal Kidney	kidney
38	chr2:187408800-187409600	Flanking Active TSS	Osteobl	bone
39	chr2:187408800-187410400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr2:187408800-187410600	Weak transcription	Psoas Muscle	Psoas
41	chr2:187408800-187410800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:187408800-187412200	Enhancers	HSMM	muscle
43	chr2:187409000-187409400	Active TSS	A549	lung
44	chr2:187409000-187409400	Enhancers	HUVEC	blood vessel
45	chr2:187409000-187409800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:187409000-187410000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr2:187409000-187410000	Weak transcription	Adipose Nuclei	Adipose
48	chr2:187409000-187410400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:187409000-187410800	Enhancers	HepG2	liver
50	chr2:187409200-187409400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links