Variant report

Variant	rs6680191
Chromosome Location	chr1:157995300-157995301
allele	C/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	EP300	chr1:157995278-157996005	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
KIRREL-IT1	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11264874	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264878	1.00[YRI][hapmap]
rs12037357	0.98[ASN][1000 genomes]
rs1925038	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972216	0.82[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4445460	0.82[CEU][hapmap];0.93[YRI][hapmap];1.00[ASN][1000 genomes]
rs4971174	1.00[CEU][hapmap];0.97[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4971177	1.00[CEU][hapmap];0.93[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4971179	0.82[CEU][hapmap];0.80[YRI][hapmap]
rs4971180	0.85[CEU][hapmap];0.81[YRI][hapmap]
rs4971183	0.82[CEU][hapmap];0.83[YRI][hapmap]
rs5018263	0.82[CEU][hapmap];0.90[YRI][hapmap];1.00[ASN][1000 genomes]
rs55712021	0.95[ASN][1000 genomes]
rs59269620	0.95[ASN][1000 genomes]
rs6427415	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6661149	0.85[CEU][hapmap];0.82[YRI][hapmap]
rs6665898	0.85[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6666443	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7414379	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527064	1.00[ASN][1000 genomes]
rs7530591	1.00[ASN][1000 genomes]
rs7537784	1.00[CEU][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7548850	1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs7554764	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555783	1.00[ASN][1000 genomes]

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:84 , 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	chr1:157984400-157995400	Weak transcription	Fetal Brain Female	brain
3	chr1:157985200-158006000	Weak transcription	Fetal Thymus	thymus
4	chr1:157987200-157996400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:157989400-158007400	Weak transcription	Gastric	stomach
6	chr1:157990000-157996400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:157991200-157996600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr1:157991400-157996200	Enhancers	NHDF-Ad	bronchial
9	chr1:157991400-157997000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:157991400-158000400	Weak transcription	Fetal Intestine Large	intestine
11	chr1:157991800-158002200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:157991800-158007400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:157992000-157999200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:157992200-157995600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:157992200-157996200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:157992600-157996400	Genic enhancers	NHLF	lung
17	chr1:157992800-158000600	Weak transcription	Thymus	Thymus
18	chr1:157993000-157995600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr1:157993000-157995600	Weak transcription	Spleen	Spleen
20	chr1:157993000-157996200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:157993000-157996400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:157993000-157996600	Enhancers	Adipose Nuclei	Adipose
23	chr1:157993000-157997200	Strong transcription	NHEK	skin
24	chr1:157993000-158007400	Weak transcription	HSMMtube	muscle
25	chr1:157993000-158007600	Weak transcription	Esophagus	oesophagus
26	chr1:157993200-157995400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:157993200-157995600	Enhancers	ES-I3 Cell Line	embryonic stem cell
28	chr1:157993200-157996000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:157993200-158007400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:157993400-157995800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:157993400-157997800	Weak transcription	Hela-S3	cervix
32	chr1:157993600-157995600	Weak transcription	HMEC	breast
33	chr1:157993800-157996600	Enhancers	Fetal Kidney	kidney
34	chr1:157994000-157996400	Enhancers	Osteobl	bone
35	chr1:157994200-157995800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr1:157994200-157995800	Strong transcription	Fetal Intestine Small	intestine
37	chr1:157994200-157996200	Enhancers	Right Atrium	heart
38	chr1:157994200-157998200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr1:157994400-157995400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr1:157994400-157995600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:157994400-157995800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr1:157994400-157995800	Enhancers	Left Ventricle	heart
43	chr1:157994400-157995800	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr1:157994400-157996000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:157994400-157996000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr1:157994400-157996000	Enhancers	Ovary	ovary
47	chr1:157994400-157996200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:157994400-157996200	Genic enhancers	Fetal Muscle Leg	muscle
49	chr1:157994400-157996200	Enhancers	NH-A	brain
50	chr1:157994400-157996400	Enhancers	Aorta	Aorta

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