Variant report

Variant	rs9306170
Chromosome Location	chr21:45449424-45449425
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	chr21:45431046..45433017-chr21:45448957..45451202,3	MCF-7	breast:
2	chr21:45449259..45451430-chr21:45484484..45487019,2	K562	blood:

Variant related genes	Relation type
ENSG00000160218	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10084560	1.00[AMR][1000 genomes]
rs10084623	1.00[AMR][1000 genomes]
rs10470253	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2227265	0.94[YRI][hapmap]
rs2838525	1.00[AMR][1000 genomes]
rs73377259	1.00[AMR][1000 genomes]
rs9974773	1.00[AMR][1000 genomes]
rs9977077	1.00[AMR][1000 genomes]
rs9977718	1.00[AMR][1000 genomes]
rs9980683	0.83[LWK][hapmap]
rs9981524	1.00[AMR][1000 genomes]
rs9981945	1.00[AMR][1000 genomes]
rs9982231	1.00[AMR][1000 genomes]
rs9983454	1.00[AMR][1000 genomes]
rs9984328	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap]
rs9984820	1.00[YRI][hapmap];1.00[AMR][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	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1063752	chr21:45406095-45460342	Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv459293	chr21:45415913-45555079	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv587721	chr21:45415913-45555079	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv1064549	chr21:45446358-45493720	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45433200-45452600	Weak transcription	Aorta	Aorta
2	chr21:45434200-45450800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr21:45434400-45451000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr21:45435000-45450200	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr21:45438200-45451400	Weak transcription	Hela-S3	cervix
6	chr21:45440800-45451400	Weak transcription	Dnd41	blood
7	chr21:45441800-45452400	Weak transcription	Fetal Brain Female	brain
8	chr21:45444400-45452400	Weak transcription	Fetal Intestine Small	intestine
9	chr21:45445200-45450000	Enhancers	Brain Hippocampus Middle	brain
10	chr21:45445200-45450200	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr21:45445200-45450800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr21:45445200-45452400	Weak transcription	Esophagus	oesophagus
13	chr21:45445200-45454400	Weak transcription	A549	lung
14	chr21:45445200-45454600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr21:45445200-45457800	Weak transcription	Small Intestine	intestine
16	chr21:45445200-45471400	Weak transcription	Stomach Mucosa	stomach
17	chr21:45445400-45454400	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr21:45445400-45454600	Weak transcription	Colonic Mucosa	Colon
19	chr21:45445400-45509400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr21:45445600-45452600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr21:45445800-45450200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr21:45445800-45451200	Weak transcription	Pancreas	Pancrea
23	chr21:45445800-45452800	Weak transcription	Fetal Lung	lung
24	chr21:45445800-45457800	Weak transcription	Gastric	stomach
25	chr21:45445800-45458200	Weak transcription	HSMMtube	muscle
26	chr21:45445800-45471400	Weak transcription	Right Atrium	heart
27	chr21:45446000-45449600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr21:45446000-45451400	Weak transcription	Fetal Intestine Large	intestine
29	chr21:45446000-45452400	Weak transcription	Fetal Muscle Leg	muscle
30	chr21:45446000-45452600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr21:45446000-45452600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr21:45446000-45452600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr21:45446000-45452600	Weak transcription	HSMM	muscle
34	chr21:45446000-45452600	Weak transcription	HUVEC	blood vessel
35	chr21:45446200-45450800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr21:45446200-45451400	Weak transcription	Liver	Liver
37	chr21:45446200-45452200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
38	chr21:45446200-45452400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr21:45446200-45452400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr21:45446200-45452400	Weak transcription	HMEC	breast
41	chr21:45446200-45452600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:45446200-45452600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr21:45446200-45452800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr21:45446200-45453000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr21:45446200-45453800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:45446200-45454200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr21:45446200-45454400	Weak transcription	Colon Smooth Muscle	Colon
48	chr21:45446200-45454600	Weak transcription	NHLF	lung
49	chr21:45446400-45449600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr21:45446400-45451400	Weak transcription	Primary T cells from cord blood	blood

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