Variant report

Variant	rs10469638
Chromosome Location	chr2:172272107-172272108
allele	A/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172009192..172011548-chr2:172270786..172273321,2	K562	blood:
2	chr2:172270914..172275149-chr2:172275462..172279658,6	K562	blood:
3	chr2:172015616..172017761-chr2:172271152..172272814,2	MCF-7	breast:
4	chr2:172271134..172274908-chr2:172289137..172291473,5	MCF-7	breast:
5	chr2:172265513..172268385-chr2:172270721..172272607,2	MCF-7	breast:
6	chr2:172269451..172273904-chr2:172275650..172277742,4	K562	blood:
7	chr2:172271657..172275800-chr2:172289994..172293745,6	K562	blood:
8	chr2:172271335..172273049-chr2:172276074..172277809,2	MCF-7	breast:
9	chr2:172267840..172270296-chr2:172270765..172273449,2	K562	blood:
10	chr2:172015744..172019134-chr2:172270782..172274226,5	K562	blood:
11	chr2:172270978..172272997-chr2:172289315..172290964,3	MCF-7	breast:
12	chr2:172016348..172019248-chr2:172270460..172274931,6	MCF-7	breast:
13	chr2:172271841..172274486-chr2:172281833..172284953,3	K562	blood:
14	chr2:172270508..172272587-chr2:172288176..172290267,2	K562	blood:
15	chr2:171830276..171832132-chr2:172271180..172272801,2	MCF-7	breast:
16	chr2:172267543..172269824-chr2:172270765..172273272,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123600	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10190558	1.00[AFR][1000 genomes]
rs10204895	1.00[AFR][1000 genomes]
rs13404032	1.00[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:172258600-172272400	Weak transcription	A549	lung
5	chr2:172259400-172272200	Weak transcription	Fetal Intestine Small	intestine
6	chr2:172260200-172272200	Weak transcription	HepG2	liver
7	chr2:172261600-172277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr2:172264800-172272400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr2:172265000-172272200	Weak transcription	Primary B cells from cord blood	blood
10	chr2:172266400-172272200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:172266400-172272200	Weak transcription	Brain Anterior Caudate	brain
12	chr2:172266400-172272400	Weak transcription	Fetal Muscle Leg	muscle
13	chr2:172266400-172272400	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr2:172266400-172277400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:172266400-172280400	Weak transcription	Esophagus	oesophagus
16	chr2:172266400-172280400	Weak transcription	Left Ventricle	heart
17	chr2:172266400-172289600	Weak transcription	Psoas Muscle	Psoas
18	chr2:172266400-172289600	Weak transcription	Right Ventricle	heart
19	chr2:172266800-172272200	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr2:172266800-172272200	Weak transcription	Fetal Stomach	stomach
21	chr2:172267400-172272200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:172267400-172272400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr2:172267400-172272400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr2:172267400-172272400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:172267600-172272200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:172267800-172272400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr2:172268000-172272400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:172268000-172272400	Weak transcription	Fetal Kidney	kidney
29	chr2:172268800-172272200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr2:172268800-172272400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:172268800-172289200	Weak transcription	HSMM	muscle
32	chr2:172269000-172272200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:172269000-172272200	Weak transcription	HSMMtube	muscle
34	chr2:172269000-172272200	Weak transcription	NH-A	brain
35	chr2:172269000-172272400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:172269000-172272400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:172269000-172280400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:172269200-172272200	Weak transcription	HMEC	breast
39	chr2:172269200-172272200	Weak transcription	NHEK	skin
40	chr2:172269200-172272200	Weak transcription	NHLF	lung
41	chr2:172269200-172272400	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:172269200-172272400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr2:172269200-172272400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:172269200-172280200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:172269400-172272400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr2:172269600-172272200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:172269600-172272200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr2:172269600-172272200	Weak transcription	Fetal Brain Female	brain
49	chr2:172269600-172272400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr2:172269600-172280400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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