Variant report

Variant	rs6666443
Chromosome Location	chr1:157991323-157991324
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	RCOR1	chr1:157991103-157991804	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr1:157991153-157991389	K562	blood:	n/a	n/a
3	MAX	chr1:157990997-157991935	ECC-1	luminal epithelium:	n/a	n/a
4	ZNF143	chr1:157991189-157991389	GM12878	blood:	n/a	n/a
5	ZNF143	chr1:157991185-157991434	H1-hESC	embryonic stem cell:	n/a	n/a
6	ZNF143	chr1:157991097-157991405	Hela-S3	cervix:	n/a	n/a
7	ZNF143	chr1:157991135-157991433	K562	blood:	n/a	n/a
8	STAT3	chr1:157991136-157991827	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:157980406..157983368-chr1:157988556..157991541,2	K562	blood:

Variant related genes	Relation type
KIRREL-IT1	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11264874	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11264878	0.93[YRI][hapmap]
rs12021619	1.00[CHB][hapmap]
rs12037357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs12039337	1.00[CHB][hapmap]
rs1925038	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1972216	0.82[CEU][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2224932	0.82[CHB][hapmap];0.84[JPT][hapmap]
rs4445460	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4971174	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.90[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4971177	1.00[CEU][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4971179	0.82[CEU][hapmap]
rs4971180	0.85[CEU][hapmap]
rs4971183	0.82[CEU][hapmap]
rs5018263	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[YRI][hapmap];0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55712021	0.95[ASN][1000 genomes]
rs59269620	0.95[ASN][1000 genomes]
rs6427415	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6661149	0.85[CEU][hapmap]
rs6665898	0.85[CEU][hapmap];0.94[YRI][hapmap]
rs6680191	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	1.00[AFR][1000 genomes];1.00[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];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7548850	0.94[YRI][hapmap]
rs7554764	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7555783	1.00[CHB][hapmap];1.00[JPT][hapmap];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:88 , 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	chr1:157985600-157991400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:157986000-157993000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:157986000-157993200	Enhancers	Placenta	Placenta
11	chr1:157986200-157993200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr1:157986400-157993000	Enhancers	Ovary	ovary
13	chr1:157986400-157993200	Enhancers	Fetal Lung	lung
14	chr1:157986400-157993200	Enhancers	Fetal Muscle Leg	muscle
15	chr1:157987000-157993200	Enhancers	Fetal Stomach	stomach
16	chr1:157987200-157996400	Enhancers	Skeletal Muscle Male	skeletal muscle
17	chr1:157987600-157993000	Enhancers	H1 Cell Line	embryonic stem cell
18	chr1:157987800-157991400	Enhancers	Fetal Heart	heart
19	chr1:157987800-157993000	Enhancers	Colon Smooth Muscle	Colon
20	chr1:157987800-157993600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:157988000-157993400	Enhancers	Rectal Smooth Muscle	rectum
22	chr1:157988200-157991400	Enhancers	Fetal Intestine Large	intestine
23	chr1:157988200-157991400	Enhancers	Fetal Intestine Small	intestine
24	chr1:157988200-157993400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr1:157988400-157992400	Weak transcription	Esophagus	oesophagus
26	chr1:157988400-157993600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:157989000-157991600	Weak transcription	Spleen	Spleen
28	chr1:157989000-157992600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:157989400-157992600	Weak transcription	Psoas Muscle	Psoas
30	chr1:157989400-157992600	Weak transcription	Right Ventricle	heart
31	chr1:157989400-158007400	Weak transcription	Gastric	stomach
32	chr1:157989600-157991400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:157989600-157991800	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:157989600-157993400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:157989800-157992200	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr1:157989800-157992600	Enhancers	Adipose Nuclei	Adipose
37	chr1:157989800-157993200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:157989800-157993400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr1:157989800-157993400	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr1:157989800-157993800	Enhancers	HUES64 Cell Line	embryonic stem cell
41	chr1:157990000-157991600	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr1:157990000-157992600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr1:157990000-157992800	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr1:157990000-157993000	Enhancers	Stomach Smooth Muscle	stomach
45	chr1:157990000-157993200	Enhancers	HUVEC	blood vessel
46	chr1:157990000-157993800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr1:157990000-157994600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr1:157990000-157996400	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr1:157990200-157991400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:157990200-157991600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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