Variant report

Variant	rs4671239
Chromosome Location	chr2:55325372-55325373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:55278300..55281080-chr2:55325086..55327233,3	K562	blood:
2	chr2:55276927..55278545-chr2:55322721..55325631,2	K562	blood:
3	chr2:55274277..55275806-chr2:55323435..55326407,2	K562	blood:
4	chr2:55323307..55326609-chr2:55326695..55329491,3	K562	blood:
5	chr2:55323589..55325752-chr2:55333096..55335881,2	MCF-7	breast:
6	chr2:55287997..55290069-chr2:55324008..55326423,2	K562	blood:
7	chr2:55323175..55325737-chr2:55325839..55328414,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000115310	Chromatin interaction
ENSG00000266376	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12464796	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12990261	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35275603	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6718269	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7595814	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006172	chr2:55322883-55340812	Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2760568	chr2:55322895-55330350	Weak transcription Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv2763510	chr2:55322895-55330350	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3345871	chr2:55323717-55336931	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	esv3457756	chr2:55323755-55336917	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv3457755	chr2:55323788-55336864	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	esv3457757	chr2:55323788-55336864	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv9883	chr2:55323841-55336774	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv999212	chr2:55324276-55340812	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1004503	chr2:55324276-55343705	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv997458	chr2:55324276-55344326	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv1013316	chr2:55324276-55345262	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	esv2421886	chr2:55324288-55335045	Enhancers Flanking Active TSS Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
14	esv3693301	chr2:55324960-55335045	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
15	nsv517331	chr2:55324960-55335045	Enhancers Weak transcription Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
16	nsv817951	chr2:55324960-55335045	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55316800-55327200	Enhancers	Primary neutrophils fromperipheralblood	blood
2	chr2:55318400-55329600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:55320000-55327200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:55321000-55326600	Weak transcription	HMEC	breast
5	chr2:55321400-55326400	Weak transcription	Primary B cells from cord blood	blood
6	chr2:55321600-55327400	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:55321600-55339400	Weak transcription	Thymus	Thymus
8	chr2:55321800-55336400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:55322000-55326600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:55322000-55326600	Weak transcription	NHEK	skin
11	chr2:55322600-55327200	Enhancers	HUVEC	blood vessel
12	chr2:55322600-55327800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr2:55322800-55327200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr2:55322800-55327200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:55322800-55327200	Enhancers	Adipose Nuclei	Adipose
16	chr2:55323600-55325400	Enhancers	Colon Smooth Muscle	Colon
17	chr2:55323600-55325400	Enhancers	Right Atrium	heart
18	chr2:55323600-55325400	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr2:55323600-55325400	Enhancers	Hela-S3	cervix
20	chr2:55323600-55326600	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:55323600-55326600	Enhancers	HSMMtube	muscle
22	chr2:55323600-55326600	Enhancers	NHLF	lung
23	chr2:55323600-55326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:55323600-55327200	Enhancers	Osteobl	bone
25	chr2:55323600-55328200	Enhancers	K562	blood
26	chr2:55323600-55330000	Enhancers	HSMM	muscle
27	chr2:55323800-55325400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:55323800-55325400	Enhancers	Brain Substantia Nigra	brain
29	chr2:55323800-55325400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr2:55323800-55325400	Enhancers	Psoas Muscle	Psoas
31	chr2:55323800-55325400	Enhancers	Stomach Mucosa	stomach
32	chr2:55323800-55327200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr2:55323800-55327200	Enhancers	Dnd41	blood
34	chr2:55323800-55327400	Enhancers	NHDF-Ad	bronchial
35	chr2:55323800-55327800	Enhancers	Brain Hippocampus Middle	brain
36	chr2:55323800-55329800	Enhancers	NH-A	brain
37	chr2:55324000-55325400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr2:55324000-55325400	Enhancers	Fetal Intestine Large	intestine
39	chr2:55324000-55325600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr2:55324000-55327400	Weak transcription	Lung	lung
41	chr2:55324200-55325400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:55324200-55325400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:55324200-55325400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:55324400-55327400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr2:55324600-55325400	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr2:55324600-55325400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr2:55324600-55325400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:55324600-55325400	Enhancers	Fetal Intestine Small	intestine
49	chr2:55324600-55325400	Enhancers	Small Intestine	intestine
50	chr2:55324600-55325400	Enhancers	HepG2	liver

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