Variant report

Variant	rs10953706
Chromosome Location	chr7:111833830-111833831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:111827933..111830797-chr7:111833168..111837325,5	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10233673	0.80[JPT][hapmap]
rs10240912	0.87[ASN][1000 genomes]
rs10266365	0.82[JPT][hapmap]
rs10435366	0.82[JPT][hapmap]
rs11773464	0.90[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.87[ASN][1000 genomes]
rs12154681	0.83[JPT][hapmap]
rs12154685	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12537746	0.90[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]
rs12705816	0.81[CHB][hapmap];0.91[CHD][hapmap];0.88[JPT][hapmap];0.87[ASN][1000 genomes]
rs12705817	0.90[CHB][hapmap];0.85[CHD][hapmap];0.94[JPT][hapmap];0.88[ASN][1000 genomes]
rs13236012	0.90[CHB][hapmap];0.93[JPT][hapmap]
rs2708600	0.88[JPT][hapmap]
rs2708601	0.86[JPT][hapmap]
rs4464880	0.82[JPT][hapmap]
rs4727766	0.94[JPT][hapmap]
rs4730519	0.87[ASN][1000 genomes]
rs4730524	0.86[JPT][hapmap]
rs6949809	0.82[JPT][hapmap]
rs6966390	0.82[JPT][hapmap]
rs6974364	0.81[JPT][hapmap]
rs6976889	0.85[JPT][hapmap]
rs6978767	0.94[JPT][hapmap]
rs736771	0.90[CEU][hapmap];0.80[CHB][hapmap];0.94[JPT][hapmap]
rs757195	0.80[JPT][hapmap]
rs757196	0.82[JPT][hapmap]
rs7789649	0.88[JPT][hapmap]
rs7802828	0.84[CEU][hapmap];0.84[GIH][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap]
rs960348	0.90[CHB][hapmap];0.94[JPT][hapmap];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers 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	15 gene(s)	inside rSNPs	diseases
5	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers 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	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10953706	TFEC	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111814000-111836000	Weak transcription	Fetal Brain Female	brain
2	chr7:111817400-111835800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:111823200-111843200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:111823400-111839000	Weak transcription	Fetal Lung	lung
5	chr7:111826000-111839000	Weak transcription	NHLF	lung
6	chr7:111826000-111842200	Enhancers	HUVEC	blood vessel
7	chr7:111827000-111837000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:111827800-111835600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr7:111829200-111842600	Weak transcription	Psoas Muscle	Psoas
10	chr7:111830000-111834600	Enhancers	NHEK	skin
11	chr7:111830200-111834200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:111830200-111834600	Enhancers	HMEC	breast
13	chr7:111831200-111837400	Weak transcription	Brain Angular Gyrus	brain
14	chr7:111831800-111835800	Weak transcription	Brain Substantia Nigra	brain
15	chr7:111831800-111836000	Weak transcription	Brain Anterior Caudate	brain
16	chr7:111831800-111836200	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:111831800-111842600	Weak transcription	Right Ventricle	heart
18	chr7:111832000-111835200	Weak transcription	Ovary	ovary
19	chr7:111832000-111842600	Weak transcription	Left Ventricle	heart
20	chr7:111832200-111836600	Enhancers	HepG2	liver
21	chr7:111833000-111836200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr7:111833000-111839000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:111833400-111834000	Enhancers	Lung	lung
24	chr7:111833400-111838200	Weak transcription	Hela-S3	cervix
25	chr7:111833400-111838600	Weak transcription	A549	lung
26	chr7:111833400-111838800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:111833400-111841400	Weak transcription	NH-A	brain
28	chr7:111833600-111834200	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:111833600-111835600	Enhancers	Liver	Liver
30	chr7:111833800-111834000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr7:111833800-111834400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr7:111833800-111834600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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