Variant report

Variant	rs1385650
Chromosome Location	chr15:74466466-74466467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	JUND	chr15:74466354-74466693	A549	lung:	n/a	n/a
2	ZNF263	chr15:74466192-74466516	HEK293-T-REx	kidney:	n/a	chr15:74466371-74466380
3	POLR2A	chr15:74466073-74467011	ProgFib	skin:	n/a	n/a
4	POLR2A	chr15:74466404-74466536	GM12878	blood:	n/a	n/a
5	POLR2A	chr15:74460105-74471859	A549	lung:	n/a	n/a
6	POLR2A	chr15:74466323-74466522	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74466286..74468382-chr15:74470933..74472488,2	MCF-7	breast:
2	chr15:74465289..74467713-chr15:74468699..74473006,4	MCF-7	breast:

Variant related genes	Relation type
ISLR	TF binding region
ENSG00000261543	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1052622	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.96[TSI][hapmap];0.89[YRI][hapmap];0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10910	0.94[CEU][hapmap];0.91[CHB][hapmap];0.95[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs351237	0.83[CEU][hapmap]
rs351243	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4886574	0.83[CEU][hapmap];0.86[CHB][hapmap];0.98[CHD][hapmap];0.89[GIH][hapmap];0.95[JPT][hapmap];0.92[ASN][1000 genomes]
rs4887066	0.86[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.93[ASN][1000 genomes]
rs6495089	0.83[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs736118	0.82[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833053	chr15:74360156-74555140	Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1050884	chr15:74394983-74489413	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv833054	chr15:74457643-74625283	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv904345	chr15:74458181-74526596	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv904346	chr15:74458181-74548773	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv904347	chr15:74462629-74537101	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	nsv904348	chr15:74462629-74542686	Genic enhancers Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74463000-74467400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr15:74464400-74467600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr15:74464600-74466800	Enhancers	Fetal Heart	heart
4	chr15:74464600-74467000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr15:74464600-74467400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr15:74464600-74467400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr15:74464600-74467400	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr15:74464600-74467400	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr15:74464800-74466600	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr15:74464800-74466600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:74464800-74467200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:74464800-74473600	Enhancers	Right Ventricle	heart
13	chr15:74465000-74466600	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr15:74465000-74466800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:74465000-74467200	Enhancers	Lung	lung
16	chr15:74465000-74467400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:74465000-74467400	Enhancers	Osteobl	bone
18	chr15:74465000-74467800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr15:74465000-74470000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr15:74465200-74466600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr15:74465200-74466800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:74465200-74467200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr15:74465200-74467600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr15:74465200-74469200	Weak transcription	Aorta	Aorta
25	chr15:74465200-74472200	Weak transcription	Brain Substantia Nigra	brain
26	chr15:74465200-74473000	Enhancers	Brain Germinal Matrix	brain
27	chr15:74465400-74466600	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr15:74465400-74467000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:74465400-74467200	Enhancers	A549	lung
30	chr15:74465400-74467200	Enhancers	NH-A	brain
31	chr15:74465600-74466600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr15:74465600-74467200	Enhancers	Muscle Satellite Cultured Cells	--
33	chr15:74465600-74467400	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr15:74465600-74468000	Enhancers	HSMM	muscle
35	chr15:74465600-74468400	Flanking Active TSS	Adipose Nuclei	Adipose
36	chr15:74465800-74466600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr15:74465800-74467000	Enhancers	Fetal Brain Male	brain
38	chr15:74465800-74467200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr15:74465800-74467200	Active TSS	Rectal Mucosa Donor 29	rectum
40	chr15:74465800-74467600	Active TSS	Colonic Mucosa	Colon
41	chr15:74466000-74466600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
42	chr15:74466000-74466600	Flanking Active TSS	HSMMtube	muscle
43	chr15:74466000-74466800	Flanking Active TSS	Fetal Stomach	stomach
44	chr15:74466000-74467000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr15:74466000-74467000	Active TSS	Fetal Lung	lung
46	chr15:74466000-74467200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr15:74466000-74467600	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr15:74466000-74467800	Active TSS	Fetal Kidney	kidney
49	chr15:74466000-74468800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr15:74466000-74468800	Weak transcription	HUES64 Cell Line	embryonic stem cell

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