Variant report

Variant	rs16851720
Chromosome Location	chr3:141463298-141463299
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	GATA3	chr3:141463147-141463324	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:141460791..141464587-chr3:141594120..141597016,3	MCF-7	breast:
2	chr3:141460404..141464291-chr3:141593804..141597029,4	MCF-7	breast:

Variant related genes	Relation type
RNF7	TF binding region
ENSG00000069849	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16851736	0.81[ASW][hapmap];0.83[LWK][hapmap];0.81[MKK][hapmap];0.87[YRI][hapmap];0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949709	chr3:141295050-142178144	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv877552	chr3:141420562-141466147	Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Hepatitis C induced liver fibrosis	22841784	GWAS catalog

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:141458200-141470400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:141458400-141463600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:141458400-141464000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr3:141458600-141468000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:141458800-141470800	Weak transcription	Stomach Mucosa	stomach
6	chr3:141459000-141463400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:141459000-141463600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:141459000-141463600	Weak transcription	Esophagus	oesophagus
9	chr3:141459000-141465600	Weak transcription	Lung	lung
10	chr3:141459000-141465800	Weak transcription	Gastric	stomach
11	chr3:141459400-141464000	Weak transcription	Fetal Stomach	stomach
12	chr3:141459600-141463400	Weak transcription	Fetal Brain Female	brain
13	chr3:141459600-141464200	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr3:141459600-141470800	Weak transcription	Fetal Brain Male	brain
15	chr3:141459800-141463400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
16	chr3:141460000-141463600	Weak transcription	Fetal Kidney	kidney
17	chr3:141460000-141467000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr3:141460200-141463400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr3:141460200-141463400	Weak transcription	Thymus	Thymus
20	chr3:141460200-141463400	Weak transcription	HMEC	breast
21	chr3:141460200-141463600	Weak transcription	Colonic Mucosa	Colon
22	chr3:141460200-141464000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:141460200-141464000	Weak transcription	HSMMtube	muscle
24	chr3:141460200-141466000	Weak transcription	Ovary	ovary
25	chr3:141460200-141466400	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr3:141460200-141468000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr3:141460200-141468200	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:141460200-141469800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr3:141460400-141463400	Weak transcription	Fetal Muscle Leg	muscle
30	chr3:141460400-141463400	Weak transcription	Left Ventricle	heart
31	chr3:141460400-141463400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:141460400-141463400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr3:141460400-141463600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
34	chr3:141460400-141463800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr3:141460400-141464000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr3:141460400-141464000	Weak transcription	Spleen	Spleen
37	chr3:141460400-141465800	Weak transcription	Aorta	Aorta
38	chr3:141460400-141465800	Weak transcription	Psoas Muscle	Psoas
39	chr3:141460400-141466000	Weak transcription	Small Intestine	intestine
40	chr3:141460400-141472400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr3:141460600-141463600	Weak transcription	Brain Germinal Matrix	brain
42	chr3:141460600-141464000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr3:141460800-141466000	Strong transcription	K562	blood
44	chr3:141460800-141470400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:141461000-141471600	Strong transcription	Fetal Thymus	thymus
46	chr3:141461200-141464600	Strong transcription	HSMM	muscle
47	chr3:141461200-141470000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:141461400-141463600	Enhancers	Brain Hippocampus Middle	brain
49	chr3:141461400-141463600	Genic enhancers	Fetal Intestine Large	intestine
50	chr3:141461400-141463800	Genic enhancers	Primary T helper cells fromperipheralblood	blood

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