Variant report

Variant	rs17581439
Chromosome Location	chr2:172737267-172737268
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:172734552..172737535-chr2:172742363..172744070,2	K562	blood:
2	chr2:172737244..172739400-chr2:172984997..172987788,2	MCF-7	breast:
3	chr2:172733649..172740490-chr2:172749209..172752081,6	MCF-7	breast:
4	chr2:172736226..172738889-chr2:172742380..172745045,2	K562	blood:
5	chr2:172737251..172741632-chr2:172744127..172746151,4	K562	blood:
6	chr2:172708386..172710884-chr2:172736150..172738509,2	K562	blood:
7	chr2:172736755..172739863-chr2:172746964..172750897,4	K562	blood:

Variant related genes	Relation type
ENSG00000115840	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12053046	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12614709	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12619041	0.81[EUR][1000 genomes]
rs12620126	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12622772	0.82[EUR][1000 genomes]
rs12622895	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17581361	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17615262	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2176465	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3736499	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3765166	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3765167	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3770448	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770449	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3770455	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3821093	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs55864623	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs56275355	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57718990	0.83[ASN][1000 genomes]
rs57775770	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58540694	0.89[ASN][1000 genomes]
rs62182370	0.80[EUR][1000 genomes]
rs62182372	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62182373	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62182374	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62182392	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72881938	0.83[EUR][1000 genomes]
rs72885532	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs72885545	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7584258	0.87[EUR][1000 genomes];0.83[ASN][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	nsv834457	chr2:172564939-172770901	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv583611	chr2:172683481-172750257	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	nsv1006214	chr2:172691689-172754296	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv536036	chr2:172691689-172754296	Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	nsv875410	chr2:172693780-172896587	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875411	chr2:172693780-172942448	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172690200-172750200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172691400-172738600	Weak transcription	Esophagus	oesophagus
3	chr2:172709600-172749600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:172709600-172749600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr2:172710800-172747800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:172711600-172740000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:172712200-172749200	Weak transcription	Hela-S3	cervix
8	chr2:172712400-172738200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr2:172721200-172749600	Weak transcription	Thymus	Thymus
10	chr2:172724000-172749600	Weak transcription	Small Intestine	intestine
11	chr2:172724800-172749600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:172725400-172749800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr2:172725800-172749600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:172727800-172738600	Weak transcription	Dnd41	blood
15	chr2:172731400-172746400	Weak transcription	Fetal Lung	lung
16	chr2:172731600-172749600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:172731800-172740600	Weak transcription	Fetal Stomach	stomach
18	chr2:172731800-172746400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:172732000-172738600	Weak transcription	Primary T cells from cord blood	blood
20	chr2:172732000-172746000	Weak transcription	Fetal Brain Female	brain
21	chr2:172732000-172746400	Weak transcription	Fetal Muscle Leg	muscle
22	chr2:172732000-172746400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:172732000-172746600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:172732000-172748800	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:172732000-172749400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:172732000-172749400	Weak transcription	A549	lung
27	chr2:172732000-172749600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:172732000-172749800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:172732000-172749800	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr2:172732000-172750000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr2:172732200-172746400	Weak transcription	Primary B cells from cord blood	blood
32	chr2:172732200-172749600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr2:172732400-172749600	Weak transcription	Fetal Kidney	kidney
34	chr2:172732400-172749800	Weak transcription	Fetal Thymus	thymus
35	chr2:172732600-172747000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr2:172732800-172737400	Enhancers	Fetal Heart	heart
37	chr2:172733000-172746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr2:172733000-172749200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:172733000-172749400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr2:172735200-172749600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:172735400-172746600	Weak transcription	HSMM	muscle
42	chr2:172735400-172748200	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr2:172735400-172748400	Weak transcription	Brain Anterior Caudate	brain
44	chr2:172735400-172749400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr2:172735400-172749400	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:172735400-172749400	Weak transcription	Brain Hippocampus Middle	brain
47	chr2:172735400-172749600	Weak transcription	Brain Cingulate Gyrus	brain
48	chr2:172735400-172749600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr2:172735400-172749600	Weak transcription	NHDF-Ad	bronchial
50	chr2:172735400-172749600	Weak transcription	NHEK	skin

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