Variant report

Variant	rs7519243
Chromosome Location	chr1:157992818-157992819
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	TCF7L2	chr1:157992495-157993122	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr1:157992463-157992859	Hela-S3	cervix:	n/a	n/a
3	MAZ	chr1:157992739-157993007	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr1:157992294-157993054	Hela-S3	cervix:	n/a	chr1:157992503-157992516 chr1:157992503-157992516 chr1:157992505-157992516 chr1:157992503-157992514 chr1:157992503-157992516
5	MXI1	chr1:157992756-157993017	Hela-S3	cervix:	n/a	n/a
6	TFAP2C	chr1:157992708-157993179	Hela-S3	cervix:	n/a	n/a
7	PRDM1	chr1:157992766-157993168	Hela-S3	cervix:	n/a	chr1:157992922-157992936

Variant related genes	Relation type
KIRREL-IT1	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1925037	1.00[YRI][hapmap]
rs6671484	1.00[YRI][hapmap]
rs912645	1.00[YRI][hapmap]
rs912646	1.00[YRI][hapmap]
rs912647	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823720	chr1:157978556-158034017	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:157975400-157996800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:157983800-157993200	Enhancers	Fetal Kidney	kidney
3	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
4	chr1:157985200-157993200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:157985200-157995000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
7	chr1:157985400-157993400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:157986000-157993000	Enhancers	Placenta Amnion	Placenta Amnion
9	chr1:157986000-157993200	Enhancers	Placenta	Placenta
10	chr1:157986200-157993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:157986400-157993000	Enhancers	Ovary	ovary
12	chr1:157986400-157993200	Enhancers	Fetal Lung	lung
13	chr1:157986400-157993200	Enhancers	Fetal Muscle Leg	muscle
14	chr1:157987000-157993200	Enhancers	Fetal Stomach	stomach
15	chr1:157987200-157996400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr1:157987600-157993000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr1:157987800-157993000	Enhancers	Colon Smooth Muscle	Colon
18	chr1:157987800-157993600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr1:157988000-157993400	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:157988200-157993400	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr1:157988400-157993600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr1:157989400-158007400	Weak transcription	Gastric	stomach
23	chr1:157989600-157993400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:157989800-157993200	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr1:157989800-157993400	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr1:157989800-157993400	Enhancers	Rectal Mucosa Donor 29	rectum
27	chr1:157989800-157993800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr1:157990000-157993000	Enhancers	Stomach Smooth Muscle	stomach
29	chr1:157990000-157993200	Enhancers	HUVEC	blood vessel
30	chr1:157990000-157993800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr1:157990000-157994600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:157990000-157996400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr1:157990200-157993000	Enhancers	NH-A	brain
34	chr1:157990800-157993000	Enhancers	HSMMtube	muscle
35	chr1:157990800-157993400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:157991200-157993000	Enhancers	Colonic Mucosa	Colon
37	chr1:157991200-157993000	Enhancers	Duodenum Mucosa	Duodenum
38	chr1:157991200-157993000	Enhancers	HSMM	muscle
39	chr1:157991200-157994600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr1:157991200-157994600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr1:157991200-157996600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr1:157991400-157993600	Enhancers	Osteobl	bone
43	chr1:157991400-157996200	Enhancers	NHDF-Ad	bronchial
44	chr1:157991400-157997000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr1:157991400-158000400	Weak transcription	Fetal Intestine Large	intestine
46	chr1:157991600-157993000	Enhancers	Spleen	Spleen
47	chr1:157991800-157993000	Enhancers	Fetal Muscle Trunk	muscle
48	chr1:157991800-157993000	Enhancers	Left Ventricle	heart
49	chr1:157991800-157993000	Enhancers	Right Atrium	heart
50	chr1:157991800-157993200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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