Variant report

Variant	rs2850340
Chromosome Location	chr4:102191412-102191413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102190888..102194130-chr4:102267595..102270674,3	MCF-7	breast:
2	chr4:102191153..102193723-chr4:102199346..102202643,3	MCF-7	breast:
3	chr4:102121617..102124341-chr4:102190145..102192909,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254531	Chromatin interaction
ENSG00000138814	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1441429	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2119599	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2119601	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2583388	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2583403	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2583404	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2850341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850342	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2850343	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850346	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2850955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2850956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2850958	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2850962	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850965	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2850966	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2850973	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3804397	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
2	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
3	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
5	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102180600-102192400	Weak transcription	Ovary	ovary
2	chr4:102180600-102197000	Weak transcription	Left Ventricle	heart
3	chr4:102180600-102203000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr4:102182600-102192600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:102184000-102203200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:102184200-102194600	Weak transcription	Psoas Muscle	Psoas
7	chr4:102184400-102199600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr4:102184600-102199400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr4:102185200-102192600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:102185400-102193600	Weak transcription	Brain Anterior Caudate	brain
11	chr4:102186200-102192600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:102186200-102196200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr4:102186600-102192200	Weak transcription	Small Intestine	intestine
14	chr4:102186600-102194400	Weak transcription	Gastric	stomach
15	chr4:102186800-102192600	Weak transcription	Stomach Mucosa	stomach
16	chr4:102187000-102192200	Weak transcription	HUVEC	blood vessel
17	chr4:102187000-102192600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr4:102187200-102192400	Weak transcription	Liver	Liver
19	chr4:102188000-102192200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr4:102188200-102192400	Weak transcription	HepG2	liver
21	chr4:102188200-102196000	Weak transcription	Primary B cells from cord blood	blood
22	chr4:102188400-102193600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr4:102188400-102196200	Weak transcription	Primary B cells from peripheral blood	blood
24	chr4:102188400-102196400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr4:102188800-102192600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:102188800-102192600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr4:102188800-102203200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:102189800-102191600	Enhancers	Colon Smooth Muscle	Colon
29	chr4:102191200-102192200	Weak transcription	A549	lung
30	chr4:102191200-102192600	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr4:102191200-102192800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr4:102191200-102196200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr4:102191400-102191600	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr4:102191400-102202200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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