Variant report

Variant	rs1670234
Chromosome Location	chr15:99660177-99660178
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:99644145..99647299-chr15:99657883..99660597,3	MCF-7	breast:
2	chr15:99653397..99656049-chr15:99657808..99660823,3	MCF-7	breast:
3	chr15:99658366..99661719-chr15:99663030..99668142,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259475	Chromatin interaction
ENSG00000182253	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10902539	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12148328	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12441651	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670216	0.86[EUR][1000 genomes]
rs1670232	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1670233	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1670244	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1670248	0.82[ASN][1000 genomes]
rs1670251	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1670253	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1670254	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1703762	0.84[EUR][1000 genomes]
rs1703763	0.86[EUR][1000 genomes]
rs1703766	0.86[EUR][1000 genomes]
rs187755	0.89[ASN][1000 genomes]
rs2305445	0.82[ASN][1000 genomes]
rs260087	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs260114	0.88[ASN][1000 genomes]
rs2602022	0.86[EUR][1000 genomes]
rs2654967	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3210942	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3743248	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3816452	0.83[ASN][1000 genomes]
rs4573918	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs55803543	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7183480	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs921578	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs925236	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531079	chr15:98907913-99878547	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1039575	chr15:98982045-99924685	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv869529	chr15:99416774-99903351	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv533375	chr15:99443534-99696221	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription 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	29 gene(s)	inside rSNPs	diseases
5	nsv1050982	chr15:99450004-99725825	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
6	nsv530685	chr15:99452377-99713365	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	nsv1055008	chr15:99477144-100019861	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1045124	chr15:99504843-99847210	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers 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	39 gene(s)	inside rSNPs	diseases
9	nsv1038870	chr15:99510479-99768374	Enhancers Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv904543	chr15:99513231-99991506	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
11	nsv533926	chr15:99519820-99997114	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
12	nsv915926	chr15:99519820-100138705	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
13	nsv1051782	chr15:99621061-99792967	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv916822	chr15:99621061-99878564	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS 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	30 gene(s)	inside rSNPs	diseases
15	nsv949203	chr15:99621061-99932797	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	31 gene(s)	inside rSNPs	diseases
16	nsv817289	chr15:99621061-100138705	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv431411	chr15:99621061-100143999	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
18	nsv570716	chr15:99629901-99916332	Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:99646400-99663200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr15:99646600-99662200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr15:99646800-99663600	Weak transcription	Ovary	ovary
4	chr15:99646800-99663600	Weak transcription	Spleen	Spleen
5	chr15:99647000-99662000	Weak transcription	HUVEC	blood vessel
6	chr15:99647000-99663200	Weak transcription	HSMM	muscle
7	chr15:99647600-99672400	Weak transcription	Esophagus	oesophagus
8	chr15:99648000-99663200	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr15:99648200-99663000	Weak transcription	NHDF-Ad	bronchial
10	chr15:99648200-99663200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:99649000-99663800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr15:99650400-99663400	Weak transcription	HSMMtube	muscle
13	chr15:99650600-99663400	Weak transcription	Colonic Mucosa	Colon
14	chr15:99650800-99662000	Strong transcription	A549	lung
15	chr15:99651200-99663200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:99651200-99663800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr15:99651400-99663200	Weak transcription	NH-A	brain
18	chr15:99651800-99662800	Weak transcription	Primary T cells from cord blood	blood
19	chr15:99651800-99663200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr15:99651800-99663200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:99652000-99669800	Weak transcription	Thymus	Thymus
22	chr15:99652200-99663600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:99652400-99663200	Weak transcription	Fetal Intestine Large	intestine
24	chr15:99653400-99660600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr15:99654200-99660800	Genic enhancers	Colon Smooth Muscle	Colon
26	chr15:99654200-99663600	Weak transcription	Pancreas	Pancrea
27	chr15:99655000-99660800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr15:99655000-99661600	Weak transcription	Brain Anterior Caudate	brain
29	chr15:99655000-99663200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr15:99655200-99660400	Weak transcription	Brain Angular Gyrus	brain
31	chr15:99655400-99663000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr15:99655400-99663200	Weak transcription	HepG2	liver
33	chr15:99655400-99663200	Weak transcription	NHLF	lung
34	chr15:99655400-99664400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr15:99655600-99663200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr15:99655600-99663200	Weak transcription	Fetal Intestine Small	intestine
37	chr15:99656200-99660200	Strong transcription	Hela-S3	cervix
38	chr15:99656200-99663400	Enhancers	Rectal Smooth Muscle	rectum
39	chr15:99656400-99660200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
40	chr15:99657400-99660200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr15:99657800-99660400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr15:99657800-99660600	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:99657800-99663600	Weak transcription	Gastric	stomach
44	chr15:99658200-99660600	Genic enhancers	Right Ventricle	heart
45	chr15:99658600-99663400	Enhancers	Fetal Heart	heart
46	chr15:99658800-99660200	Weak transcription	Brain Substantia Nigra	brain
47	chr15:99658800-99663200	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr15:99659000-99660600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
49	chr15:99659000-99661200	Enhancers	Fetal Muscle Trunk	muscle
50	chr15:99659200-99661600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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