Variant report

Variant	rs60008508
Chromosome Location	chr9:18473184-18473185
allele	C/T
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	GATA3	chr9:18472537-18473296	SK-N-SH	brain:	n/a	chr9:18472887-18472899 chr9:18472888-18472898 chr9:18472888-18472897 chr9:18472890-18472897 chr9:18472886-18472899 chr9:18472885-18472901
2	CEBPB	chr9:18472721-18473214	Hela-S3	cervix:	n/a	n/a
3	GATA3	chr9:18472548-18473233	SK-N-SH	brain:	n/a	chr9:18472887-18472899 chr9:18472888-18472898 chr9:18472888-18472897 chr9:18472890-18472897 chr9:18472886-18472899 chr9:18472885-18472901
4	GATA2	chr9:18472650-18473397	HUVEC	blood vessel:	n/a	chr9:18472887-18472899 chr9:18472887-18472901 chr9:18472888-18472898 chr9:18472888-18472897 chr9:18472890-18472897 chr9:18472886-18472899 chr9:18472885-18472901
5	TCF7L2	chr9:18472682-18473225	Hela-S3	cervix:	n/a	n/a

Variant related genes	Relation type
ADAMTSL1	TF binding region

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

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

rs_ID	r²[population]
rs10511637	1.00[EUR][1000 genomes]
rs12001288	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1361533	1.00[EUR][1000 genomes]
rs16936729	0.82[AFR][1000 genomes]
rs16936777	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1856705	0.81[AFR][1000 genomes]
rs57153018	0.82[AFR][1000 genomes]
rs58068158	0.86[AFR][1000 genomes]

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	nsv491807	chr9:18243672-19009770	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	9 gene(s)	inside rSNPs	diseases
2	nsv525659	chr9:18288212-19009041	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1019127	chr9:18288271-18996288	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases
4	nsv892688	chr9:18385143-18551247	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1029449	chr9:18414752-18829127	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv540077	chr9:18414752-18829127	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv1030931	chr9:18414752-18903530	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription 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	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:18464200-18474400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:18471800-18475800	Enhancers	Hela-S3	cervix
3	chr9:18472200-18473400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr9:18472200-18473600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr9:18472200-18473800	Enhancers	NHEK	skin
6	chr9:18472400-18473200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr9:18472400-18473200	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr9:18472400-18473600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr9:18472600-18473200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:18472600-18473200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr9:18472600-18473400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:18472600-18473600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr9:18472600-18473800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:18472800-18473200	Enhancers	Duodenum Mucosa	Duodenum
15	chr9:18472800-18473200	Flanking Active TSS	NHDF-Ad	bronchial
16	chr9:18472800-18473200	Flanking Active TSS	NHLF	lung
17	chr9:18472800-18473400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:18472800-18473400	Flanking Active TSS	Fetal Heart	heart
19	chr9:18472800-18473400	Flanking Active TSS	Fetal Stomach	stomach
20	chr9:18472800-18473400	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr9:18472800-18473600	Enhancers	Brain Anterior Caudate	brain
22	chr9:18472800-18473600	Enhancers	Colon Smooth Muscle	Colon
23	chr9:18472800-18473600	Flanking Active TSS	NH-A	brain
24	chr9:18472800-18473800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr9:18472800-18473800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:18472800-18474000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr9:18472800-18474000	Flanking Active TSS	Brain Germinal Matrix	brain
28	chr9:18473000-18473200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:18473000-18473200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr9:18473000-18473200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr9:18473000-18473200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr9:18473000-18473200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr9:18473000-18473200	Flanking Active TSS	Fetal Lung	lung
34	chr9:18473000-18473200	Enhancers	Lung	lung
35	chr9:18473000-18473200	Enhancers	Placenta Amnion	Placenta Amnion
36	chr9:18473000-18473200	Enhancers	Psoas Muscle	Psoas
37	chr9:18473000-18473200	Flanking Active TSS	HSMM	muscle
38	chr9:18473000-18473400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr9:18473000-18473400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr9:18473000-18473400	Enhancers	Colonic Mucosa	Colon
41	chr9:18473000-18473400	Enhancers	Fetal Brain Female	brain
42	chr9:18473000-18473400	Flanking Active TSS	Fetal Muscle Leg	muscle
43	chr9:18473000-18473400	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr9:18473000-18473600	Enhancers	H1 Cell Line	embryonic stem cell
45	chr9:18473000-18473600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr9:18473000-18473600	Enhancers	iPS-15b Cell Line	embryonic stem cell
47	chr9:18473000-18473600	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr9:18473000-18473600	Enhancers	Right Atrium	heart
49	chr9:18473000-18473800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:18473000-18473800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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