Variant report

Variant	rs73942924
Chromosome Location	chr2:55920749-55920750
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: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	chr2:55920465..55921094-chr7:5569393..5570095,2	Hela-S3	cervix:
2	chr2:55920582..55922485-chr2:56215430..56218121,2	K562	blood:
3	chr2:55911687..55914723-chr2:55917441..55920952,3	K562	blood:
4	chr2:55901517..55904388-chr2:55919135..55920931,2	K562	blood:
5	chr2:55919171..55920952-chr2:55938967..55941895,2	MCF-7	breast:
6	chr2:55841795..55844862-chr2:55919047..55922552,3	K562	blood:
7	chr2:55843362..55845607-chr2:55918078..55921710,3	K562	blood:
8	chr17:62222684..62223474-chr2:55920600..55921160,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000199753	Chromatin interaction
ENSG00000207798	Chromatin interaction
ENSG00000272606	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000138041	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72812159	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531374	chr2:55653723-56299784	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv834080	chr2:55741036-55927928	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv2757798	chr2:55747239-55981074	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2759050	chr2:55747239-55981074	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats 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 miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1008452	chr2:55809191-55987274	Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
6	esv2762645	chr2:55892248-55963418	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv2760573	chr2:55903016-55941440	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv9802	chr2:55910254-55939253	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv16137	chr2:55910848-55938746	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv442740	chr2:55914790-55938579	Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
11	nsv514069	chr2:55914952-55938116	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55918400-55921600	Active TSS	GM12878-XiMat	blood
2	chr2:55919400-55921400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:55919400-55921400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:55919400-55921800	Active TSS	A549	lung
5	chr2:55919600-55921200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:55919600-55921400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:55919600-55921400	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:55919600-55921400	Active TSS	HMEC	breast
9	chr2:55919600-55921600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:55919800-55920800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr2:55919800-55920800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr2:55919800-55921000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:55919800-55921000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr2:55919800-55921200	Active TSS	H1 Cell Line	embryonic stem cell
15	chr2:55919800-55921200	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr2:55919800-55921200	Active TSS	HSMM	muscle
17	chr2:55919800-55921400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:55919800-55921400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr2:55919800-55921400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:55919800-55921400	Active TSS	Fetal Intestine Large	intestine
21	chr2:55919800-55921600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:55919800-55921600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr2:55919800-55921600	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr2:55919800-55921600	Active TSS	Fetal Intestine Small	intestine
25	chr2:55919800-55921600	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:55919800-55922400	Active TSS	Right Atrium	heart
27	chr2:55920000-55920800	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr2:55920000-55921000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr2:55920000-55921000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr2:55920000-55921000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:55920000-55921000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:55920000-55921000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr2:55920000-55921000	Bivalent/Poised TSS	HepG2	liver
34	chr2:55920000-55921200	Active TSS	H9 Cell Line	embryonic stem cell
35	chr2:55920000-55921200	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr2:55920000-55921200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr2:55920000-55921200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr2:55920000-55921200	Active TSS	Primary hematopoietic stem cells short term culture	blood
39	chr2:55920000-55921200	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr2:55920000-55921200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:55920000-55921200	Active TSS	Esophagus	oesophagus
42	chr2:55920000-55921200	Active TSS	Hela-S3	cervix
43	chr2:55920000-55921200	Active TSS	K562	blood
44	chr2:55920000-55921200	Active TSS	NHEK	skin
45	chr2:55920000-55921400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr2:55920000-55921400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:55920000-55921400	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr2:55920000-55921400	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr2:55920000-55921400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr2:55920000-55921400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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