Variant report

Variant	rs674118
Chromosome Location	chr3:43128088-43128089
allele	G/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	TEAD4	chr3:43127833-43128611	K562	blood:	n/a	n/a
2	RCOR1	chr3:43128085-43128588	K562	blood:	n/a	n/a
3	JUN	chr3:43127959-43129408	K562	blood:	n/a	chr3:43128157-43128168

Variant related genes	Relation type
ENSG00000227245	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10865926	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4683359	0.92[AFR][1000 genomes]
rs491970	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs535994	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs552472	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs614993	1.00[YRI][hapmap]
rs632013	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs664197	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs939436	0.95[AFR][1000 genomes]
rs9828191	0.92[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	nsv460522	chr3:42967597-43175207	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv590149	chr3:42967597-43175207	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers 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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:43119000-43129600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr3:43119400-43129800	Weak transcription	Fetal Kidney	kidney
3	chr3:43119600-43130400	Weak transcription	Hela-S3	cervix
4	chr3:43119600-43135000	Weak transcription	Psoas Muscle	Psoas
5	chr3:43119800-43143800	Weak transcription	Fetal Heart	heart
6	chr3:43122400-43134400	Weak transcription	HepG2	liver
7	chr3:43122400-43145800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr3:43122600-43128200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr3:43122600-43130200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr3:43122600-43145200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr3:43122800-43128600	Weak transcription	Liver	Liver
12	chr3:43122800-43129200	Weak transcription	Brain Anterior Caudate	brain
13	chr3:43122800-43132200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:43122800-43132200	Weak transcription	Fetal Lung	lung
15	chr3:43122800-43133000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:43122800-43134800	Weak transcription	Brain Substantia Nigra	brain
17	chr3:43122800-43136000	Weak transcription	Pancreas	Pancrea
18	chr3:43122800-43136400	Weak transcription	HSMMtube	muscle
19	chr3:43122800-43145600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr3:43123000-43129600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr3:43123000-43132200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr3:43123000-43132600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:43123000-43135200	Weak transcription	Brain Angular Gyrus	brain
24	chr3:43123000-43136000	Weak transcription	Right Ventricle	heart
25	chr3:43123000-43144400	Weak transcription	Fetal Intestine Large	intestine
26	chr3:43123000-43146400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr3:43123000-43146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr3:43123200-43132000	Weak transcription	Colon Smooth Muscle	Colon
29	chr3:43123200-43140400	Weak transcription	Gastric	stomach
30	chr3:43123200-43144400	Weak transcription	Spleen	Spleen
31	chr3:43123200-43145000	Weak transcription	Adipose Nuclei	Adipose
32	chr3:43123400-43130000	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:43123400-43146400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:43123600-43128800	Weak transcription	Esophagus	oesophagus
35	chr3:43123600-43135000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr3:43123600-43135400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:43123600-43143600	Weak transcription	Lung	lung
38	chr3:43123600-43146600	Weak transcription	Fetal Intestine Small	intestine
39	chr3:43123800-43129800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:43123800-43129800	Weak transcription	Fetal Stomach	stomach
41	chr3:43123800-43132400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr3:43123800-43136400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:43124000-43133400	Weak transcription	Fetal Brain Male	brain
44	chr3:43124000-43134600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:43124200-43131400	Weak transcription	Ovary	ovary
46	chr3:43124200-43135600	Weak transcription	Fetal Brain Female	brain
47	chr3:43124200-43145000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr3:43124400-43132000	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr3:43124400-43135600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr3:43124400-43136200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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