Variant report

Variant	rs2049557
Chromosome Location	chr7:102037870-102037871
allele	A/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	chr7:102032593..102034411-chr7:102036972..102038643,2	K562	blood:
2	chr7:101924860..101932400-chr7:102029531..102038487,21	MCF-7	breast:
3	chr7:101928063..101931419-chr7:102036448..102039604,3	K562	blood:
4	chr7:101924242..101933059-chr7:102034727..102040076,14	MCF-7	breast:
5	chr7:102034801..102038822-chr7:102042441..102049946,10	MCF-7	breast:
6	chr16:9846717..9849658-chr7:102036931..102038865,2	MCF-7	breast:
7	chr7:102035614..102039182-chr7:102043646..102046627,5	MCF-7	breast:
8	chr7:102035604..102038403-chr7:102105375..102107150,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000221510	Chromatin interaction
ENSG00000128563	Chromatin interaction
ENSG00000160999	Chromatin interaction
ENSG00000266715	Chromatin interaction
ENSG00000161036	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10238421	1.00[ASN][1000 genomes]
rs10953364	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10953366	0.94[EUR][1000 genomes]
rs1109204	0.95[ASN][1000 genomes]
rs11444	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11496123	0.90[EUR][1000 genomes]
rs2410988	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410989	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2411004	0.83[AFR][1000 genomes]
rs2960244	0.91[ASN][1000 genomes]
rs2960248	0.83[ASN][1000 genomes]
rs2960258	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2960268	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3988090	0.96[ASN][1000 genomes]
rs4338028	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729786	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4729787	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4729788	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55743224	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55989026	0.91[ASN][1000 genomes]
rs55995033	0.94[EUR][1000 genomes]
rs58910789	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61652290	0.85[ASN][1000 genomes]
rs6955864	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971258	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73189811	0.94[EUR][1000 genomes]
rs73189869	0.94[EUR][1000 genomes]
rs7802423	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1814780	chr7:101912320-102375950	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv1819566	chr7:101912320-102375950	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	esv1822347	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	esv1825708	chr7:101912320-102375950	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	esv1842898	chr7:101912320-102375950	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	esv1847418	chr7:101912320-102375950	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription 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 miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
7	nsv427798	chr7:101912320-102375950	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv428182	chr7:101912320-102375950	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv1016563	chr7:101912320-102695860	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
10	nsv1028438	chr7:101912320-102704135	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
11	nsv1029079	chr7:101939998-102112371	Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv1818954	chr7:101957513-102328097	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	esv1828190	chr7:101966669-102439077	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
14	esv1829377	chr7:101970299-102330884	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv831083	chr7:101981005-102295869	Active TSS Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
16	esv1806297	chr7:101981544-102330884	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
17	esv1810415	chr7:101993063-102375950	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
18	esv1811751	chr7:101993063-102375950	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
19	esv1829118	chr7:101993063-102375950	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
20	esv1833155	chr7:101993063-102375950	Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 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	chr7:102035800-102038000	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr7:102035800-102038200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr7:102036000-102038000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr7:102036000-102038000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr7:102036000-102038000	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:102036000-102038000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:102036000-102038000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr7:102036000-102038000	Active TSS	NHDF-Ad	bronchial
9	chr7:102036000-102038200	Active TSS	Muscle Satellite Cultured Cells	--
10	chr7:102036200-102038000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:102036200-102038000	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:102037000-102038000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
13	chr7:102037000-102038000	Flanking Active TSS	Primary B cells from cord blood	blood
14	chr7:102037000-102038000	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr7:102037000-102038000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:102037000-102038000	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr7:102037000-102038000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
18	chr7:102037200-102038000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:102037200-102038000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
20	chr7:102037200-102038000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr7:102037200-102038000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
22	chr7:102037200-102038000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr7:102037200-102038000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr7:102037200-102038000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr7:102037200-102038000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr7:102037200-102038000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:102037200-102038000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr7:102037200-102038000	Flanking Active TSS	Liver	Liver
29	chr7:102037200-102038000	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr7:102037200-102038000	Flanking Active TSS	Brain Germinal Matrix	brain
31	chr7:102037200-102038000	Flanking Active TSS	Fetal Muscle Trunk	muscle
32	chr7:102037200-102038000	Active TSS	Right Atrium	heart
33	chr7:102037200-102038000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:102037200-102038000	Flanking Active TSS	Osteobl	bone
35	chr7:102037400-102038000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:102037400-102038000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr7:102037400-102038000	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr7:102037400-102038000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr7:102037400-102038000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:102037400-102038000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr7:102037400-102038000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:102037400-102038000	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr7:102037400-102038000	Flanking Active TSS	Brain Anterior Caudate	brain
44	chr7:102037400-102038000	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr7:102037400-102038000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr7:102037400-102038000	Flanking Active TSS	Colon Smooth Muscle	Colon
47	chr7:102037400-102038000	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr7:102037400-102038000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
49	chr7:102037400-102038000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr7:102037400-102038000	Flanking Active TSS	Fetal Brain Female	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links