Variant report

Variant	rs7237971
Chromosome Location	chr18:29666287-29666288
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29662644..29667608-chr18:29668028..29673014,9	K562	blood:
2	chr18:29660336..29661951-chr18:29664954..29667841,2	K562	blood:
3	chr18:29661516..29666367-chr18:29670429..29672911,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265008	Chromatin interaction
ENSG00000134758	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16962699	0.80[ASN][1000 genomes]
rs16962701	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4799327	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4799328	0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4799630	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs55786778	0.82[ASN][1000 genomes]
rs56360277	0.88[AMR][1000 genomes]
rs56810557	0.84[ASN][1000 genomes]
rs61271315	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs67074695	0.82[AMR][1000 genomes]
rs68037424	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7229437	0.88[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7230167	0.82[ASN][1000 genomes]
rs73415859	0.80[ASN][1000 genomes]
rs73415860	0.80[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	esv2757673	chr18:29632749-29674992	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv2758719	chr18:29632749-29674992	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv909521	chr18:29645496-29671510	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv909522	chr18:29645496-29674992	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv909523	chr18:29645496-29679922	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1055457	chr18:29654978-29677371	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29631400-29671400	Weak transcription	Hela-S3	cervix
2	chr18:29656000-29671400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr18:29663800-29671400	Weak transcription	Fetal Kidney	kidney
4	chr18:29664400-29666400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr18:29664400-29666400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
6	chr18:29664400-29666600	Enhancers	Fetal Thymus	thymus
7	chr18:29664400-29671400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr18:29664600-29666400	Enhancers	Thymus	Thymus
9	chr18:29664600-29667600	Enhancers	NHEK	skin
10	chr18:29664600-29671600	Weak transcription	Left Ventricle	heart
11	chr18:29665000-29666400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr18:29665200-29666400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr18:29665200-29666400	Weak transcription	Fetal Muscle Leg	muscle
14	chr18:29665200-29671400	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr18:29665200-29671800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr18:29665400-29667600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr18:29665400-29671400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr18:29665600-29666600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr18:29665600-29671400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr18:29665600-29671400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:29665800-29666400	Enhancers	Primary B cells from peripheral blood	blood
22	chr18:29665800-29666400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr18:29665800-29666600	Enhancers	NHLF	lung
24	chr18:29665800-29667000	Weak transcription	Osteobl	bone
25	chr18:29665800-29668000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr18:29666000-29666400	Enhancers	Primary T cells from cord blood	blood
27	chr18:29666000-29666400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr18:29666000-29666400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr18:29666000-29666400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr18:29666000-29666400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr18:29666000-29666400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr18:29666000-29666400	Enhancers	Adipose Nuclei	Adipose
33	chr18:29666000-29666400	Enhancers	Duodenum Mucosa	Duodenum
34	chr18:29666000-29666400	Enhancers	Dnd41	blood
35	chr18:29666000-29666400	Enhancers	HUVEC	blood vessel
36	chr18:29666000-29666600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr18:29666000-29666600	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr18:29666000-29666600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr18:29666000-29666600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr18:29666000-29666800	Weak transcription	HMEC	breast
41	chr18:29666000-29667000	Enhancers	Primary T cells fromperipheralblood	blood
42	chr18:29666000-29667000	Weak transcription	NH-A	brain
43	chr18:29666000-29667200	Enhancers	Stomach Mucosa	stomach
44	chr18:29666000-29667600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:29666000-29667800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr18:29666000-29667800	Enhancers	Primary B cells from cord blood	blood
47	chr18:29666000-29670800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr18:29666000-29671400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr18:29666000-29671400	Weak transcription	NHDF-Ad	bronchial
50	chr18:29666200-29666400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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