Variant report

Variant	rs136955
Chromosome Location	chr22:27813701-27813702
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	chr22:27813673..27816169-chr22:27820833..27822951,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12158509	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12160663	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13054757	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs136940	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs136941	0.80[EUR][1000 genomes]
rs136942	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs136944	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs136945	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136948	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136949	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs136950	0.83[EUR][1000 genomes]
rs136956	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs136961	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1884127	0.83[ASN][1000 genomes]
rs1884128	0.83[ASN][1000 genomes]
rs1884129	0.83[ASN][1000 genomes]
rs2342940	0.82[EUR][1000 genomes]
rs34716864	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4822876	0.83[ASN][1000 genomes]
rs5752544	0.83[ASN][1000 genomes]
rs5762139	0.83[ASN][1000 genomes]
rs6005422	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6005423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6005425	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6005427	0.90[ASN][1000 genomes]
rs73427534	0.90[ASN][1000 genomes]
rs79557	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	nsv834166	chr22:27628570-27814359	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv834167	chr22:27758395-27910985	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv459864	chr22:27760086-27865344	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv588875	chr22:27760086-27865344	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:27810800-27813800	Enhancers	HUES6 Cell Line	embryonic stem cell
2	chr22:27810800-27814000	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr22:27810800-27814200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr22:27810800-27814200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr22:27811200-27814600	Enhancers	Fetal Brain Male	brain
6	chr22:27811600-27813800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:27811600-27813800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:27811600-27813800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr22:27811600-27814000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr22:27811600-27814200	Enhancers	Fetal Brain Female	brain
11	chr22:27811800-27814000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr22:27811800-27814000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:27811800-27814000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr22:27812000-27813800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr22:27812000-27813800	Enhancers	HMEC	breast
16	chr22:27812000-27814000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:27812000-27814000	Bivalent Enhancer	Fetal Stomach	stomach
18	chr22:27812000-27814200	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr22:27812200-27813800	Enhancers	Fetal Lung	lung
20	chr22:27812200-27813800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr22:27812200-27814200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr22:27812600-27813800	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr22:27812600-27813800	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr22:27812600-27816800	Enhancers	HUVEC	blood vessel
25	chr22:27812600-27817000	Enhancers	NH-A	brain
26	chr22:27812600-27817800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr22:27812800-27816600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr22:27812800-27817400	Weak transcription	Fetal Thymus	thymus
29	chr22:27813000-27813800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr22:27813000-27814000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr22:27813000-27815000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr22:27813000-27816200	Weak transcription	Right Atrium	heart
33	chr22:27813200-27813800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr22:27813200-27815600	Weak transcription	Fetal Kidney	kidney
35	chr22:27813200-27816400	Weak transcription	NHLF	lung
36	chr22:27813400-27814000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:27813400-27814200	Weak transcription	Pancreas	Pancrea
38	chr22:27813400-27814800	Weak transcription	Brain Substantia Nigra	brain
39	chr22:27813400-27814800	Weak transcription	HSMMtube	muscle
40	chr22:27813400-27815200	Weak transcription	HSMM	muscle
41	chr22:27813400-27815400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr22:27813400-27815400	Weak transcription	Colon Smooth Muscle	Colon
43	chr22:27813400-27816400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr22:27813400-27816400	Weak transcription	Ovary	ovary
45	chr22:27813600-27814000	Weak transcription	Gastric	stomach
46	chr22:27813600-27814600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr22:27813600-27814800	Weak transcription	NHEK	skin
48	chr22:27813600-27815200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr22:27813600-27816400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr22:27813600-27816400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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