Variant report

Variant	rs1206366
Chromosome Location	chr7:121717108-121717109
allele	C/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	POLR2A	chr7:121716374-121719354	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:121716954-121717154	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:121717006-121717229	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:121716983-121717169	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
RNU7-154P	TF binding region

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10233433	1.00[ASN][1000 genomes]
rs2134059	0.96[ASN][1000 genomes]
rs4140745	0.96[ASN][1000 genomes]
rs6944507	0.96[ASN][1000 genomes]
rs6954861	0.96[ASN][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	nsv608334	chr7:121670522-121725961	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121651200-121717600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:121684400-121734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:121685000-121772000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr7:121685400-121725200	Weak transcription	NHEK	skin
5	chr7:121692400-121717200	Weak transcription	Brain Substantia Nigra	brain
6	chr7:121694400-121726000	Weak transcription	Fetal Brain Male	brain
7	chr7:121699400-121721000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr7:121700800-121721200	Weak transcription	Brain Germinal Matrix	brain
9	chr7:121701200-121719200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:121703400-121755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:121704600-121725200	Weak transcription	HSMMtube	muscle
12	chr7:121705800-121724400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr7:121707600-121717600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:121709200-121717200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr7:121712600-121717600	Weak transcription	Right Ventricle	heart
16	chr7:121712800-121717600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:121713200-121717600	Weak transcription	Fetal Stomach	stomach
18	chr7:121713400-121717600	Weak transcription	Aorta	Aorta
19	chr7:121713600-121717600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:121713600-121717600	Weak transcription	Fetal Intestine Small	intestine
21	chr7:121713600-121717600	Weak transcription	Pancreas	Pancrea
22	chr7:121713600-121717600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr7:121713600-121717800	Weak transcription	Fetal Heart	heart
24	chr7:121713600-121732000	Strong transcription	Liver	Liver
25	chr7:121713800-121731800	Strong transcription	Stomach Smooth Muscle	stomach
26	chr7:121714000-121717800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:121714000-121719400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:121714000-121724000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:121714200-121733000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:121714400-121717600	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr7:121714600-121723200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:121714800-121719800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:121714800-121721800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr7:121714800-121733200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:121715000-121721400	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr7:121715200-121717600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:121715200-121730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr7:121715200-121733200	Weak transcription	NHLF	lung
39	chr7:121715200-121740200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:121715400-121717200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr7:121715400-121717400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr7:121715400-121718800	Weak transcription	HMEC	breast
43	chr7:121715400-121752000	Weak transcription	NH-A	brain
44	chr7:121715600-121717600	Weak transcription	Fetal Kidney	kidney
45	chr7:121715600-121723000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:121715800-121727400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:121715800-121735200	Weak transcription	Spleen	Spleen
48	chr7:121716000-121717600	Weak transcription	NHDF-Ad	bronchial
49	chr7:121716000-121722800	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr7:121716000-121723600	Weak transcription	Gastric	stomach

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