Variant report

Variant	rs16936748
Chromosome Location	chr9:18473791-18473792
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	PBX3	chr9:18473549-18475472	SK-N-SH	brain:	n/a	chr9:18474017-18474026
2	POLR2A	chr9:18473623-18475307	ProgFib	skin:	n/a	n/a
3	POLR2A	chr9:18473735-18474577	HUVEC	blood vessel:	n/a	n/a
4	E2F6	chr9:18473768-18474321	H1-hESC	embryonic stem cell:	n/a	chr9:18474018-18474027
5	NFIC	chr9:18473581-18475351	SK-N-SH	brain:	n/a	n/a
6	TEAD4	chr9:18473736-18475339	SK-N-SH	brain:	n/a	n/a
7	MAX	chr9:18473603-18474496	SK-N-SH	brain:	n/a	n/a
8	SIN3AK20	chr9:18473645-18474432	SK-N-SH	brain:	n/a	n/a
9	REST	chr9:18473495-18474578	H1-neurons	neurons:	n/a	n/a
10	GATA3	chr9:18473469-18475574	SK-N-SH	brain:	n/a	chr9:18475248-18475258 chr9:18475011-18475020 chr9:18474392-18474409
11	MAX	chr9:18473737-18474407	H1-hESC	embryonic stem cell:	n/a	n/a
12	KAP1	chr9:18473565-18474599	HEK293	kidney:	n/a	n/a
13	PBX3	chr9:18473767-18474452	SK-N-SH	brain:	n/a	chr9:18474017-18474026
14	NFIC	chr9:18473669-18474491	SK-N-SH	brain:	n/a	n/a
15	E2F6	chr9:18473650-18474211	H1-hESC	embryonic stem cell:	n/a	chr9:18474018-18474027
16	MAX	chr9:18473748-18474304	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr9:18473651-18474018	U87	brain:	n/a	n/a
18	TCF12	chr9:18473436-18475479	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr9:18473735-18475302	SK-N-SH	brain:	n/a	n/a
20	GATA3	chr9:18473657-18475330	SK-N-SH	brain:	n/a	chr9:18475248-18475258 chr9:18475011-18475020 chr9:18474392-18474409
21	POLR2A	chr9:18473640-18474569	U87	brain:	n/a	n/a
22	RAD21	chr9:18473636-18475296	IMR90	lung:	n/a	n/a
23	RAD21	chr9:18473726-18474391	SK-N-SH_RA	brain:	n/a	n/a
24	POLR2A	chr9:18473608-18474601	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr9:18473634-18474582	U87	brain:	n/a	n/a
26	MAX	chr9:18473639-18474516	SK-N-SH	brain:	n/a	n/a
27	TCF12	chr9:18473562-18474612	SK-N-SH	brain:	n/a	n/a
28	EP300	chr9:18473707-18474375	SK-N-SH_RA	brain:	n/a	n/a
29	POLR2A	chr9:18473672-18474338	H1-neurons	neurons:	n/a	n/a
30	EP300	chr9:18473615-18474690	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ADAMTSL1	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs16936677	1.00[AFR][1000 genomes]
rs16936680	1.00[AMR][1000 genomes]
rs35797706	1.00[AMR][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:74 , 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	chr9:18472200-18473800	Enhancers	NHEK	skin
4	chr9:18472600-18473800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:18472800-18473800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr9:18472800-18473800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr9:18472800-18474000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr9:18472800-18474000	Flanking Active TSS	Brain Germinal Matrix	brain
9	chr9:18473000-18473800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr9:18473000-18473800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr9:18473000-18473800	Enhancers	Aorta	Aorta
12	chr9:18473000-18473800	Enhancers	Left Ventricle	heart
13	chr9:18473000-18473800	Enhancers	Ovary	ovary
14	chr9:18473000-18473800	Enhancers	Rectal Smooth Muscle	rectum
15	chr9:18473000-18473800	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr9:18473000-18474000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr9:18473000-18474000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr9:18473000-18474000	Enhancers	Esophagus	oesophagus
19	chr9:18473000-18474000	Flanking Active TSS	Osteobl	bone
20	chr9:18473000-18474200	Enhancers	Fetal Brain Male	brain
21	chr9:18473000-18474200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
22	chr9:18473000-18474600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr9:18473000-18475200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr9:18473000-18475200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr9:18473000-18476800	Flanking Active TSS	HUVEC	blood vessel
26	chr9:18473000-18478000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:18473200-18473800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr9:18473200-18474600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr9:18473200-18476400	Active TSS	NHLF	lung
30	chr9:18473200-18476800	Active TSS	NHDF-Ad	bronchial
31	chr9:18473200-18477800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:18473200-18477800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:18473400-18473800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr9:18473400-18473800	Flanking Active TSS	Fetal Brain Female	brain
35	chr9:18473400-18473800	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr9:18473400-18473800	Flanking Active TSS	HSMM	muscle
37	chr9:18473400-18474000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr9:18473400-18474400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr9:18473400-18474400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr9:18473400-18474800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr9:18473400-18475200	Active TSS	Fetal Heart	heart
42	chr9:18473400-18475400	Active TSS	Fetal Kidney	kidney
43	chr9:18473400-18475400	Active TSS	Stomach Smooth Muscle	stomach
44	chr9:18473400-18475800	Active TSS	Fetal Muscle Leg	muscle
45	chr9:18473400-18476000	Active TSS	Fetal Stomach	stomach
46	chr9:18473400-18476600	Active TSS	HSMMtube	muscle
47	chr9:18473600-18473800	Flanking Active TSS	H9 Cell Line	embryonic stem cell
48	chr9:18473600-18473800	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr9:18473600-18473800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr9:18473600-18473800	Enhancers	Primary hematopoietic stem cells	blood

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