Variant report

Variant	rs7935154
Chromosome Location	chr11:74421412-74421413
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:74412796..74416556-chr11:74419507..74421577,3	K562	blood:
2	chr11:74408172..74410426-chr11:74421392..74423860,2	K562	blood:

Variant related genes	Relation type
ENSG00000054938	Chromatin interaction
ENSG00000185162	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10899039	0.86[ASN][1000 genomes]
rs10899040	0.91[CEU][hapmap];0.92[JPT][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1433770	0.91[CEU][hapmap];0.92[JPT][hapmap];0.84[EUR][1000 genomes]
rs1893880	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1944936	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1944937	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944945	0.87[CEU][hapmap];0.82[JPT][hapmap]
rs7941425	0.89[EUR][1000 genomes]
rs948517	0.88[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	nsv932190	chr11:74359867-74618935	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7935154	XRRA1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74409000-74421600	Weak transcription	Right Atrium	heart
2	chr11:74414600-74421600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:74417400-74422400	Enhancers	Placenta	Placenta
4	chr11:74418200-74422600	Enhancers	Fetal Intestine Small	intestine
5	chr11:74418800-74422600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr11:74419000-74422800	Enhancers	Fetal Stomach	stomach
7	chr11:74419400-74424400	Weak transcription	HSMMtube	muscle
8	chr11:74419800-74422400	Enhancers	Fetal Muscle Trunk	muscle
9	chr11:74420400-74421800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:74420600-74422400	Enhancers	K562	blood
11	chr11:74420600-74422600	Enhancers	Fetal Muscle Leg	muscle
12	chr11:74420800-74422200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr11:74420800-74422600	Enhancers	Colon Smooth Muscle	Colon
14	chr11:74421200-74421800	Enhancers	Adipose Nuclei	Adipose
15	chr11:74421200-74422000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:74421200-74422000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:74421200-74422000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr11:74421200-74422000	Enhancers	NHDF-Ad	bronchial
19	chr11:74421200-74422200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:74421200-74422200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:74421200-74422200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr11:74421200-74422200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr11:74421200-74422200	Enhancers	Fetal Lung	lung
24	chr11:74421200-74422400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:74421200-74422400	Enhancers	Fetal Heart	heart
26	chr11:74421200-74422400	Enhancers	Fetal Intestine Large	intestine
27	chr11:74421200-74422400	Enhancers	Stomach Smooth Muscle	stomach
28	chr11:74421400-74421600	Bivalent Enhancer	HepG2	liver
29	chr11:74421400-74421800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr11:74421400-74421800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr11:74421400-74422000	Enhancers	H1 Cell Line	embryonic stem cell
32	chr11:74421400-74422000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr11:74421400-74422000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr11:74421400-74422000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr11:74421400-74422000	Enhancers	iPS-18 Cell Line	embryonic stem cell
36	chr11:74421400-74422000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr11:74421400-74422200	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr11:74421400-74422200	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr11:74421400-74422200	Enhancers	Placenta Amnion	Placenta Amnion
40	chr11:74421400-74422400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:74421400-74422400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr11:74421400-74422400	Enhancers	Ovary	ovary
43	chr11:74421400-74422400	Enhancers	Rectal Smooth Muscle	rectum
44	chr11:74421400-74422800	Enhancers	H9 Cell Line	embryonic stem cell

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