Variant report

Variant	rs919629
Chromosome Location	chr2:74057995-74057996
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:74055980..74060254-chr2:74070607..74073353,3	MCF-7	breast:
2	chr2:74055452..74058450-chr2:74210942..74214913,3	K562	blood:
3	chr2:74056698..74058945-chr2:74079558..74081408,2	MCF-7	breast:
4	chr2:74003041..74008140-chr2:74055591..74058388,4	MCF-7	breast:
5	chr2:74056477..74058095-chr2:74392122..74393628,2	MCF-7	breast:
6	chr2:74057033..74061162-chr2:74063972..74066162,5	K562	blood:
7	chr2:74056362..74058489-chr2:74217644..74219236,2	K562	blood:
8	chr2:74055188..74061210-chr2:74210942..74215230,5	K562	blood:
9	chr2:74054272..74058005-chr2:74424584..74427795,4	K562	blood:
10	chr2:74055393..74058315-chr2:74373246..74376437,5	K562	blood:
11	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
12	chr2:74054453..74058790-chr2:74226313..74230079,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163170	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000235499	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10167667	0.91[ASN][1000 genomes]
rs10202343	0.91[ASN][1000 genomes]
rs1055888	0.86[ASN][1000 genomes]
rs11126419	0.88[ASN][1000 genomes]
rs11897051	0.91[ASN][1000 genomes]
rs12614068	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618950	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12623504	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13012471	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13414927	0.91[ASN][1000 genomes]
rs13418993	0.91[ASN][1000 genomes]
rs13419314	0.91[ASN][1000 genomes]
rs13432600	0.91[ASN][1000 genomes]
rs17009396	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17009399	0.97[ASN][1000 genomes]
rs17009404	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3738845	0.88[ASN][1000 genomes]
rs56665235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56875063	0.83[ASN][1000 genomes]
rs58787134	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59974236	0.83[ASN][1000 genomes]
rs60987687	0.91[ASN][1000 genomes]
rs61314551	0.83[ASN][1000 genomes]
rs72915479	0.97[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs72917405	0.86[ASN][1000 genomes]
rs72917409	0.88[ASN][1000 genomes]
rs72917413	0.88[ASN][1000 genomes]
rs72917415	0.91[ASN][1000 genomes]
rs72917417	0.91[ASN][1000 genomes]
rs72917422	0.91[ASN][1000 genomes]
rs7572565	0.97[ASN][1000 genomes]
rs7579755	0.91[ASN][1000 genomes]
rs7592693	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7609273	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[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	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription 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 target site	36 gene(s)	inside rSNPs	diseases
2	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription 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 target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74055200-74058000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr2:74055600-74058000	Active TSS	Psoas Muscle	Psoas
3	chr2:74056400-74058200	Flanking Active TSS	NH-A	brain
4	chr2:74056600-74058200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr2:74056800-74058000	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr2:74056800-74058200	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:74056800-74058200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr2:74056800-74058200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr2:74056800-74058200	Flanking Active TSS	HSMM	muscle
10	chr2:74056800-74058600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr2:74056800-74059000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:74056800-74059600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:74056800-74059800	Weak transcription	Aorta	Aorta
14	chr2:74056800-74059800	Weak transcription	Esophagus	oesophagus
15	chr2:74057000-74058000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr2:74057000-74058000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:74057000-74058000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr2:74057000-74058000	Weak transcription	Placenta	Placenta
19	chr2:74057000-74058200	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:74057000-74058200	Enhancers	Small Intestine	intestine
21	chr2:74057000-74058200	Flanking Active TSS	HMEC	breast
22	chr2:74057000-74058200	Flanking Active TSS	NHEK	skin
23	chr2:74057000-74058400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr2:74057000-74058400	Enhancers	Colon Smooth Muscle	Colon
25	chr2:74057000-74058400	Enhancers	HUVEC	blood vessel
26	chr2:74057000-74058600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:74057000-74058600	Enhancers	Rectal Smooth Muscle	rectum
28	chr2:74057000-74058600	Enhancers	Stomach Mucosa	stomach
29	chr2:74057000-74058800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr2:74057000-74058800	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr2:74057000-74059800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr2:74057000-74059800	Weak transcription	Gastric	stomach
33	chr2:74057000-74059800	Weak transcription	Ovary	ovary
34	chr2:74057000-74059800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:74057000-74059800	Weak transcription	Thymus	Thymus
36	chr2:74057000-74059800	Weak transcription	Spleen	Spleen
37	chr2:74057000-74060200	Weak transcription	Left Ventricle	heart
38	chr2:74057000-74061800	Weak transcription	Lung	lung
39	chr2:74057000-74063400	Weak transcription	Right Atrium	heart
40	chr2:74057000-74069400	Weak transcription	Colonic Mucosa	Colon
41	chr2:74057000-74076200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:74057000-74093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr2:74057200-74058000	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr2:74057200-74058000	Enhancers	Brain Substantia Nigra	brain
45	chr2:74057200-74058000	Enhancers	Duodenum Mucosa	Duodenum
46	chr2:74057200-74058000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr2:74057200-74058000	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:74057200-74058000	Weak transcription	Fetal Thymus	thymus
49	chr2:74057200-74058000	Enhancers	HSMMtube	muscle
50	chr2:74057200-74058200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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