Variant report

Variant	rs11607974
Chromosome Location	chr11:17233864-17233865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17228610..17231283-chr11:17232510..17234441,2	K562	blood:
2	chr11:17232900..17235805-chr11:17371883..17374578,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP1-239B22.1.1-3	chr11:17230981-17236657	NONHSAT018220

Variant related genes	Relation type
ENSG00000188211	Chromatin interaction
ENSG00000070081	Chromatin interaction
ENSG00000011405	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11603765	1.00[CHB][hapmap]
rs11604470	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11604561	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[TSI][hapmap]
rs11605497	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606773	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11607918	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11608222	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1544609	1.00[CEU][hapmap]
rs16924899	1.00[CHB][hapmap]
rs16933823	1.00[CHB][hapmap]
rs16933827	1.00[CHB][hapmap]
rs17647408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1979602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2040859	1.00[CHB][hapmap]
rs4148634	1.00[CHB][hapmap]
rs61762011	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879714	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61879715	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61879721	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61879731	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs61879758	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881880	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881884	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881886	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61881889	1.00[EUR][1000 genomes]
rs61881916	0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72862099	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7342171	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17230800-17235600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr11:17230800-17235800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr11:17230800-17239600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:17231000-17235000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:17231000-17235400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:17231200-17235400	Weak transcription	Fetal Brain Female	brain
7	chr11:17231600-17235200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr11:17231600-17235600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr11:17231600-17235600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr11:17231600-17243400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr11:17231800-17235200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:17231800-17235200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:17231800-17235400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr11:17231800-17235600	Weak transcription	Brain Angular Gyrus	brain
15	chr11:17232000-17237400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr11:17232200-17235600	Weak transcription	NHEK	skin
17	chr11:17232400-17235800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:17232400-17236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr11:17232600-17235400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:17232800-17251200	Weak transcription	Lung	lung
21	chr11:17233000-17235800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:17233200-17251800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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