Variant report

Variant	rs9613395
Chromosome Location	chr22:27599418-27599419
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	chr22:27591652..27595199-chr22:27596302..27600048,3	MCF-7	breast:
2	chr22:27066818..27069274-chr22:27599174..27601990,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CRYBA4-6	chr22:27596085-27601088	NONHSAT084576

Variant related genes	Relation type
ENSG00000244625	Chromatin interaction
ENSG00000206028	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1401522	0.84[EUR][1000 genomes]
rs4820745	0.90[ASN][1000 genomes]
rs492416	1.00[CEU][hapmap]
rs499733	0.95[CEU][hapmap]
rs544376	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8135764	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8136658	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8143105	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs849449	0.95[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv917333	chr22:26931825-27692024	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	142 gene(s)	inside rSNPs	diseases
2	esv34168	chr22:27289097-27678031	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3413125	chr22:27404463-28121577	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv459860	chr22:27527005-28181436	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
5	nsv588872	chr22:27527005-28181436	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27593600-27608800	Weak transcription	Right Atrium	heart
2	chr22:27597200-27599600	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr22:27597400-27599600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr22:27597400-27600000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr22:27597400-27600000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:27597600-27599600	Enhancers	iPS-18 Cell Line	embryonic stem cell
7	chr22:27597600-27599800	Enhancers	NH-A	brain
8	chr22:27597600-27600200	Enhancers	Fetal Intestine Small	intestine
9	chr22:27597800-27599800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr22:27597800-27600000	Enhancers	Fetal Stomach	stomach
11	chr22:27597800-27600000	Enhancers	HMEC	breast
12	chr22:27598000-27599600	Enhancers	HSMM	muscle
13	chr22:27598000-27599600	Enhancers	HUVEC	blood vessel
14	chr22:27598000-27599800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr22:27598000-27599800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr22:27598000-27599800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:27598000-27599800	Enhancers	Fetal Muscle Leg	muscle
18	chr22:27598000-27599800	Enhancers	NHLF	lung
19	chr22:27598000-27600000	Enhancers	Fetal Intestine Large	intestine
20	chr22:27598200-27599600	Enhancers	Rectal Smooth Muscle	rectum
21	chr22:27598400-27599600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr22:27598400-27599800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr22:27598400-27607800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr22:27598600-27599600	Active TSS	Stomach Smooth Muscle	stomach
25	chr22:27598600-27599800	Enhancers	Ovary	ovary
26	chr22:27598600-27600400	Enhancers	Esophagus	oesophagus
27	chr22:27598800-27599600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr22:27598800-27599600	Enhancers	HSMMtube	muscle
29	chr22:27598800-27601400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr22:27599000-27599600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr22:27599000-27600000	Enhancers	H9 Cell Line	embryonic stem cell
32	chr22:27599000-27600400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr22:27599000-27600400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr22:27599200-27599600	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr22:27599200-27599600	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr22:27599200-27599600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr22:27599200-27599600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr22:27599200-27599600	Enhancers	Muscle Satellite Cultured Cells	--
39	chr22:27599200-27599600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr22:27599200-27599600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:27599200-27599600	Enhancers	Fetal Brain Female	brain
42	chr22:27599200-27599600	Enhancers	NHDF-Ad	bronchial
43	chr22:27599200-27599800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:27599200-27599800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr22:27599200-27599800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:27599200-27599800	Enhancers	Brain Germinal Matrix	brain
47	chr22:27599200-27599800	Enhancers	Osteobl	bone
48	chr22:27599200-27600000	Enhancers	Placenta Amnion	Placenta Amnion
49	chr22:27599200-27600000	Enhancers	A549	lung
50	chr22:27599200-27601600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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