Variant report

Variant	rs73641954
Chromosome Location	chr9:14532837-14532838
allele	A/C
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	chr9:14531209-14533024	K562	blood:	n/a	chr9:14531711-14531718 chr9:14532900-14532910 chr9:14532900-14532910 chr9:14532808-14532817
2	MYC	chr9:14531389-14532935	K562	blood:	n/a	chr9:14531850-14531857 chr9:14531744-14531754
3	MXI1	chr9:14532397-14533210	SK-N-SH	brain:	n/a	n/a
4	RCOR1	chr9:14531322-14532985	K562	blood:	n/a	n/a
5	ZNF384	chr9:14531319-14532974	K562	blood:	n/a	n/a
6	POLR2A	chr9:14532724-14532845	MCF10A-Er-Src	breast:	n/a	n/a
7	GATA1	chr9:14531572-14532961	K562	blood:	n/a	chr9:14532059-14532066 chr9:14532059-14532066 chr9:14532059-14532066 chr9:14531693-14531704 chr9:14532808-14532818

No.	Distal block	Cell Line	Cell type
1	chr9:14526618..14530885-chr9:14532603..14534403,3	K562	blood:
2	chr9:14524643..14526362-chr9:14532686..14534400,2	K562	blood:
3	chr9:14513208..14515171-chr9:14532827..14534848,2	K562	blood:

Variant related genes	Relation type
ENSG00000237137	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12000057	1.00[AMR][1000 genomes]
rs12001605	1.00[AMR][1000 genomes]
rs12003860	1.00[AMR][1000 genomes]
rs16932123	1.00[AMR][1000 genomes]
rs4601430	1.00[AMR][1000 genomes]
rs60264212	1.00[AMR][1000 genomes]
rs7032648	1.00[AMR][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	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv916811	chr9:14210978-14542068	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv831517	chr9:14512924-14738206	Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv892604	chr9:14519301-14559910	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv613637	chr9:14524438-15011915	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14529200-14533000	Enhancers	iPS-15b Cell Line	embryonic stem cell
2	chr9:14529400-14534000	Weak transcription	Right Atrium	heart
3	chr9:14529400-14534000	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr9:14529800-14535600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr9:14530200-14533600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:14530200-14534400	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr9:14530200-14535000	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr9:14530200-14535600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr9:14531000-14533200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:14531000-14534000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr9:14531600-14534200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:14531600-14534400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:14531800-14533000	Enhancers	Fetal Heart	heart
14	chr9:14531800-14533400	Enhancers	Fetal Brain Female	brain
15	chr9:14531800-14533400	Enhancers	Fetal Stomach	stomach
16	chr9:14531800-14534000	Enhancers	HepG2	liver
17	chr9:14531800-14535800	Enhancers	Fetal Muscle Leg	muscle
18	chr9:14532000-14533600	Bivalent Enhancer	Fetal Lung	lung
19	chr9:14532000-14535000	Enhancers	Brain Germinal Matrix	brain
20	chr9:14532200-14533200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr9:14532200-14533600	Enhancers	HSMM	muscle
22	chr9:14532200-14534200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:14532200-14534800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr9:14532200-14535600	Enhancers	HSMMtube	muscle
25	chr9:14532200-14538400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr9:14532400-14533000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr9:14532400-14533200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:14532400-14533200	Enhancers	Muscle Satellite Cultured Cells	--
29	chr9:14532400-14533600	Enhancers	HMEC	breast
30	chr9:14532400-14533800	Enhancers	A549	lung
31	chr9:14532400-14534000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:14532400-14534000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr9:14532400-14534800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr9:14532400-14535400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:14532400-14535400	Enhancers	NHEK	skin
36	chr9:14532600-14533200	Enhancers	Fetal Kidney	kidney
37	chr9:14532600-14533400	Weak transcription	Fetal Muscle Trunk	muscle
38	chr9:14532600-14533600	Enhancers	Fetal Intestine Large	intestine
39	chr9:14532600-14533800	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr9:14532600-14534200	Enhancers	Fetal Intestine Small	intestine
41	chr9:14532600-14534600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr9:14532600-14535800	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr9:14532800-14533800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr9:14532800-14533800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr9:14532800-14533800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:14532800-14533800	Weak transcription	Right Ventricle	heart
47	chr9:14532800-14534000	Weak transcription	Left Ventricle	heart
48	chr9:14532800-14534000	Weak transcription	Lung	lung
49	chr9:14532800-14535000	Enhancers	K562	blood
50	chr9:14532800-14535200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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