Variant report

Variant	rs4754701
Chromosome Location	chr11:100688605-100688606
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:100687804..100689545-chr11:100695788..100697568,2	K562	blood:
2	chr11:100687718..100690615-chr11:100819413..100821469,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10791427	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11224461	0.91[ASN][1000 genomes]
rs11224474	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11823529	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12417529	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12419467	0.99[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12419937	0.85[ASN][1000 genomes]
rs12793858	0.87[AFR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12801715	0.94[ASN][1000 genomes]
rs17651772	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2155140	0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35472062	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs35473622	0.93[ASN][1000 genomes]
rs3858410	0.83[ASN][1000 genomes]
rs3858412	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs536090	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs582409	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs588615	0.82[AFR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs595030	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs600906	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs607890	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs612090	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs614615	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs626558	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs660736	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs662449	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs685611	0.87[AFR][1000 genomes];0.91[EUR][1000 genomes];0.88[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	nsv530643	chr11:100196082-100713156	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:100663000-100691800	Weak transcription	Fetal Muscle Leg	muscle
2	chr11:100670000-100697400	Weak transcription	Placenta	Placenta
3	chr11:100680600-100689000	Weak transcription	Psoas Muscle	Psoas
4	chr11:100680600-100691800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:100680800-100696400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:100681200-100698000	Weak transcription	Stomach Mucosa	stomach
7	chr11:100681400-100701000	Weak transcription	HSMM	muscle
8	chr11:100684000-100691000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:100684000-100691800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:100684200-100688800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:100684200-100689000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:100685800-100693400	Weak transcription	Primary B cells from cord blood	blood
13	chr11:100686200-100691800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:100686200-100702800	Weak transcription	Fetal Muscle Trunk	muscle
15	chr11:100686800-100689000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr11:100687200-100689400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:100688000-100693600	Weak transcription	Left Ventricle	heart
18	chr11:100688000-100693600	Weak transcription	Right Atrium	heart
19	chr11:100688000-100698600	Weak transcription	NH-A	brain
20	chr11:100688000-100704000	Weak transcription	Right Ventricle	heart
21	chr11:100688200-100689000	Weak transcription	Fetal Heart	heart
22	chr11:100688600-100689000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:100688600-100689400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr11:100688600-100689400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin

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