Variant report

Variant	rs2207194
Chromosome Location	chr1:171456750-171456751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr1:171456723-171456945	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:171449334..171452754-chr1:171452810..171456877,5	K562	blood:
2	chr1:171454829..171458429-chr1:171468344..171472224,4	MCF-7	breast:
3	chr1:171453426..171457241-chr1:171461305..171463614,3	MCF-7	breast:
4	chr1:171455198..171457522-chr1:171482757..171484309,2	MCF-7	breast:
5	chr1:171454832..171457416-chr1:171532662..171535516,2	MCF-7	breast:
6	chr1:169861616..169864007-chr1:171455760..171457373,2	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL425P	TF binding region
ENSG00000238859	Chromatin interaction
ENSG00000239373	Chromatin interaction
ENSG00000000457	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2056940	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4916234	0.91[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4916397	0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs6685179	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7536723	0.81[AFR][1000 genomes]
rs764206	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171453600-171457400	Active TSS	GM12878-XiMat	blood
2	chr1:171453600-171458200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:171453800-171457600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:171454000-171457000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr1:171454000-171457800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:171454200-171456800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr1:171455400-171457600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:171455600-171456800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr1:171455600-171456800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr1:171455600-171456800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr1:171455600-171457000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr1:171455600-171457000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr1:171455600-171457000	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr1:171455600-171458000	Flanking Active TSS	HUVEC	blood vessel
15	chr1:171455600-171458200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
16	chr1:171455600-171461600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:171455800-171456800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr1:171455800-171456800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:171455800-171456800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr1:171455800-171456800	Active TSS	HepG2	liver
21	chr1:171455800-171457600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:171455800-171457600	Weak transcription	Esophagus	oesophagus
23	chr1:171455800-171459000	Enhancers	Stomach Mucosa	stomach
24	chr1:171455800-171461600	Weak transcription	Gastric	stomach
25	chr1:171455800-171465400	Weak transcription	Lung	lung
26	chr1:171455800-171467800	Weak transcription	Spleen	Spleen
27	chr1:171456000-171456800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr1:171456000-171456800	Enhancers	Primary monocytes fromperipheralblood	blood
29	chr1:171456000-171456800	Flanking Active TSS	A549	lung
30	chr1:171456000-171457000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr1:171456000-171457200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr1:171456000-171457400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr1:171456000-171457400	Flanking Active TSS	NHEK	skin
34	chr1:171456000-171457600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr1:171456000-171459000	Weak transcription	Pancreas	Pancrea
36	chr1:171456000-171481800	Weak transcription	Placenta	Placenta
37	chr1:171456200-171456800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:171456200-171456800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr1:171456200-171456800	Enhancers	Colonic Mucosa	Colon
40	chr1:171456200-171457000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr1:171456200-171457000	Enhancers	Primary B cells from peripheral blood	blood
42	chr1:171456200-171457000	Weak transcription	Small Intestine	intestine
43	chr1:171456200-171457200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:171456200-171457400	Transcr. at gene 5' and 3'	Dnd41	blood
45	chr1:171456200-171457600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:171456200-171457800	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr1:171456200-171457800	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:171456200-171458000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:171456200-171458000	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr1:171456200-171458000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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