Variant report

Variant	rs1474200
Chromosome Location	chr15:43385743-43385744
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:43383221..43385892-chr15:43389653..43392510,3	K562	blood:
2	chr15:43385287..43387946-chr15:43396303..43398701,2	K562	blood:
3	chr15:43383221..43388610-chr15:43389653..43393489,4	K562	blood:

Variant related genes	Relation type
ENSG00000159459	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10851414	0.91[ASN][1000 genomes]
rs11070385	0.88[EUR][1000 genomes]
rs11070389	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11070390	0.91[ASN][1000 genomes]
rs11631404	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11632120	0.91[CHB][hapmap];0.96[JPT][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs1197533	1.00[CEU][hapmap]
rs12050604	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1206698	1.00[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap]
rs12437637	1.00[CEU][hapmap]
rs12442190	0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs12913112	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12913134	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12913213	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13329073	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs2056346	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2139651	0.91[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.92[ASN][1000 genomes]
rs2139652	0.91[ASN][1000 genomes]
rs2277532	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs476342	0.85[ASN][1000 genomes]
rs489964	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4923956	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4924702	0.82[EUR][1000 genomes]
rs502157	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs574856	0.86[ASN][1000 genomes]
rs62020706	0.88[EUR][1000 genomes]
rs7165861	0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7166467	0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[ASN][1000 genomes]
rs7169603	0.87[EUR][1000 genomes]
rs7176915	0.88[EUR][1000 genomes]
rs7496079	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8028731	1.00[CEU][hapmap];0.87[JPT][hapmap]
rs8028822	0.83[EUR][1000 genomes]
rs9635327	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9796559	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525461	chr15:43062548-43482127	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
2	nsv1044522	chr15:43115348-43658417	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv515876	chr15:43116906-43445305	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv904135	chr15:43143998-43392075	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv569239	chr15:43201109-43392075	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv569240	chr15:43201109-43445305	Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	nsv569241	chr15:43201109-43522922	Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv569242	chr15:43210030-43445305	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
9	nsv904136	chr15:43257475-43482127	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
10	nsv904137	chr15:43268970-43392075	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
11	nsv904138	chr15:43268970-43414673	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv904139	chr15:43268970-43482127	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
13	nsv1044508	chr15:43270637-43658417	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv904141	chr15:43276345-43392075	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	nsv904142	chr15:43276345-43403955	Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv904143	chr15:43276345-43414673	Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv904144	chr15:43276345-43482127	Bivalent/Poised TSS Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
18	nsv904145	chr15:43286746-43392075	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	nsv904146	chr15:43294218-43414673	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv904147	chr15:43309429-43403955	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	esv1802035	chr15:43370916-43487742	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1474200	CCNDBP1	cis	multi-tissue	Pritchard

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:43269200-43397200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:43301800-43385800	Weak transcription	Gastric	stomach
3	chr15:43303400-43397400	Weak transcription	Esophagus	oesophagus
4	chr15:43345400-43393400	Weak transcription	Psoas Muscle	Psoas
5	chr15:43346800-43395400	Weak transcription	Small Intestine	intestine
6	chr15:43348200-43389600	Weak transcription	Spleen	Spleen
7	chr15:43348400-43397400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr15:43353000-43397400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr15:43365000-43386800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr15:43365400-43385800	Weak transcription	Aorta	Aorta
11	chr15:43367400-43394400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr15:43370200-43387000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:43373200-43397200	Weak transcription	Fetal Brain Male	brain
14	chr15:43373400-43385800	Weak transcription	Right Ventricle	heart
15	chr15:43373400-43392400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr15:43373600-43396600	Weak transcription	Pancreas	Pancrea
17	chr15:43374800-43392400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr15:43375400-43396600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr15:43375600-43395400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr15:43376600-43386800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr15:43376600-43392400	Weak transcription	Fetal Brain Female	brain
22	chr15:43376600-43397200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr15:43376800-43396400	Weak transcription	Fetal Kidney	kidney
24	chr15:43376800-43396600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:43377200-43391800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr15:43377600-43392600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr15:43377600-43397200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr15:43377600-43397200	Weak transcription	Colonic Mucosa	Colon
29	chr15:43377800-43387600	Weak transcription	HepG2	liver
30	chr15:43378000-43389600	Weak transcription	HUVEC	blood vessel
31	chr15:43378000-43391800	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr15:43378000-43393000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr15:43378200-43389200	Weak transcription	Thymus	Thymus
34	chr15:43378400-43387000	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr15:43378400-43389200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr15:43378400-43389400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:43378400-43389600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr15:43378400-43389600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr15:43378400-43392200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr15:43378400-43392400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr15:43378600-43394200	Weak transcription	Hela-S3	cervix
42	chr15:43378800-43389600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr15:43378800-43392400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr15:43379000-43391800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr15:43379000-43396600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr15:43379200-43387000	Weak transcription	Brain Angular Gyrus	brain
47	chr15:43379200-43387000	Weak transcription	Colon Smooth Muscle	Colon
48	chr15:43379200-43387800	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr15:43379200-43388400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr15:43379200-43389400	Weak transcription	Dnd41	blood

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