Variant report

Variant	rs13424307
Chromosome Location	chr2:55920305-55920306
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55911687..55914723-chr2:55917441..55920952,3	K562	blood:
2	chr2:55901517..55904388-chr2:55919135..55920931,2	K562	blood:
3	chr2:55919171..55920952-chr2:55938967..55941895,2	MCF-7	breast:
4	chr2:55900367..55902394-chr2:55919082..55920612,2	MCF-7	breast:
5	chr2:55841795..55844862-chr2:55919047..55922552,3	K562	blood:
6	chr2:55843362..55845607-chr2:55918078..55921710,3	K562	blood:

Variant related genes	Relation type
ENSG00000138041	Chromatin interaction
ENSG00000272606	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10184187	1.00[AFR][1000 genomes]
rs13400676	1.00[AFR][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	chr2:55858200-55920400	Weak transcription	Fetal Heart	heart
2	chr2:55870800-55920400	Weak transcription	Aorta	Aorta
3	chr2:55904200-55920600	Weak transcription	Stomach Mucosa	stomach
4	chr2:55912000-55920400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:55912600-55920400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:55918400-55921600	Active TSS	GM12878-XiMat	blood
7	chr2:55919400-55920400	Enhancers	Primary B cells from cord blood	blood
8	chr2:55919400-55920400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
9	chr2:55919400-55920400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr2:55919400-55921400	Active TSS	iPS-20b Cell Line	embryonic stem cell
11	chr2:55919400-55921400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:55919400-55921800	Active TSS	A549	lung
13	chr2:55919600-55921200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:55919600-55921400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:55919600-55921400	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:55919600-55921400	Active TSS	HMEC	breast
17	chr2:55919600-55921600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:55919800-55920400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr2:55919800-55920400	Enhancers	Small Intestine	intestine
20	chr2:55919800-55920600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
21	chr2:55919800-55920800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr2:55919800-55920800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr2:55919800-55921000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr2:55919800-55921000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr2:55919800-55921200	Active TSS	H1 Cell Line	embryonic stem cell
26	chr2:55919800-55921200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:55919800-55921200	Active TSS	HSMM	muscle
28	chr2:55919800-55921400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:55919800-55921400	Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr2:55919800-55921400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr2:55919800-55921400	Active TSS	Fetal Intestine Large	intestine
32	chr2:55919800-55921600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:55919800-55921600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr2:55919800-55921600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr2:55919800-55921600	Active TSS	Fetal Intestine Small	intestine
36	chr2:55919800-55921600	Active TSS	Stomach Smooth Muscle	stomach
37	chr2:55919800-55922400	Active TSS	Right Atrium	heart
38	chr2:55920000-55920400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr2:55920000-55920400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr2:55920000-55920400	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr2:55920000-55920400	Flanking Active TSS	Brain Hippocampus Middle	brain
42	chr2:55920000-55920400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr2:55920000-55920400	Flanking Active TSS	Fetal Muscle Leg	muscle
44	chr2:55920000-55920400	Flanking Active TSS	Right Ventricle	heart
45	chr2:55920000-55920400	Enhancers	Spleen	Spleen
46	chr2:55920000-55920600	Weak transcription	Fetal Brain Male	brain
47	chr2:55920000-55920600	Flanking Active TSS	Thymus	Thymus
48	chr2:55920000-55920800	Flanking Active TSS	Adipose Nuclei	Adipose
49	chr2:55920000-55921000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr2:55920000-55921000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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