Variant report

Variant	rs992122
Chromosome Location	chr4:126281438-126281439
allele	A/G
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	KAP1	chr4:126280959-126281914	U2OS	brain:	n/a	n/a
2	ZNF263	chr4:126281171-126282027	HEK293-T-REx	kidney:	n/a	chr4:126281898-126281907
3	GATA3	chr4:126281417-126281725	SH-SY5Y	brain:	n/a	n/a
4	POLR2A	chr4:126281065-126281680	SK-N-MC	brain:	n/a	n/a
5	KAP1	chr4:126280888-126281882	HEK293	kidney:	n/a	n/a
6	TCF7L2	chr4:126280818-126281851	HEK293	kidney:	n/a	chr4:126280818-126280834 chr4:126280821-126280830 chr4:126280819-126280833
7	POLR2A	chr4:126281426-126281578	MCF10A-Er-Src	breast:	n/a	n/a

Variant related genes	Relation type
ENSG00000201297	TF binding region

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10212833	0.93[CHB][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs12508222	0.86[MEX][hapmap]
rs1509285	1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[JPT][hapmap];0.88[LWK][hapmap];0.81[YRI][hapmap];0.94[ASN][1000 genomes]
rs17009497	0.82[CHB][hapmap]
rs17009524	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17009611	0.82[CHB][hapmap];0.96[YRI][hapmap]
rs17009625	0.82[CHB][hapmap]
rs7666354	0.82[CHB][hapmap];0.96[YRI][hapmap]
rs7688616	0.82[CHB][hapmap]
rs7690603	0.89[ASN][1000 genomes]
rs9994504	0.82[CHB][hapmap]

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	nsv1006068	chr4:126103233-126497467	Enhancers ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830051	chr4:126234895-126403426	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:126274000-126288800	Weak transcription	Fetal Stomach	stomach
2	chr4:126274000-126289000	Weak transcription	Fetal Brain Male	brain
3	chr4:126274200-126289400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:126276600-126282200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr4:126276800-126289800	Weak transcription	Fetal Muscle Leg	muscle
6	chr4:126277400-126288800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:126278200-126281800	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr4:126278600-126281800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:126279600-126281800	Enhancers	iPS-20b Cell Line	embryonic stem cell
10	chr4:126279800-126282000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
11	chr4:126279800-126282000	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr4:126279800-126282000	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr4:126280000-126282000	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr4:126280000-126287000	Weak transcription	Fetal Lung	lung
15	chr4:126280000-126288600	Weak transcription	Fetal Kidney	kidney
16	chr4:126280200-126282000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr4:126280800-126281800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr4:126281000-126281600	Enhancers	Brain Cingulate Gyrus	brain
19	chr4:126281000-126281800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:126281000-126281800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr4:126281000-126281800	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr4:126281000-126281800	Enhancers	Colon Smooth Muscle	Colon
23	chr4:126281000-126282000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:126281200-126281600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr4:126281200-126281600	Enhancers	H9 Cell Line	embryonic stem cell
26	chr4:126281200-126281600	Enhancers	Adipose Nuclei	Adipose
27	chr4:126281200-126281600	Enhancers	Brain Substantia Nigra	brain
28	chr4:126281200-126281800	Enhancers	Brain Hippocampus Middle	brain
29	chr4:126281200-126282000	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr4:126281200-126282000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr4:126281400-126281600	Enhancers	NHDF-Ad	bronchial

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