Variant report

Variant	rs10497623
Chromosome Location	chr2:184057219-184057220
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	chr2:184049106..184051291-chr2:184055965..184058710,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11883551	1.00[AMR][1000 genomes]
rs11884352	1.00[AMR][1000 genomes]
rs11887082	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11890957	1.00[AMR][1000 genomes]
rs16823994	1.00[CEU][hapmap]
rs16824047	1.00[CEU][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824100	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824103	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824136	1.00[AMR][1000 genomes]
rs16824139	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16824141	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2045760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2061657	1.00[CEU][hapmap]
rs2368374	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55985024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56987972	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57022552	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58726290	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59648361	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60159376	1.00[AMR][1000 genomes]
rs60835883	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60857445	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61190837	1.00[AMR][1000 genomes]
rs73042731	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042751	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73042792	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	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
2	chr2:184026000-184057600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr2:184026600-184058800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:184027600-184057600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:184029200-184062800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:184031200-184057600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:184037600-184057600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:184044000-184063000	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr2:184044400-184071600	Weak transcription	NH-A	brain
10	chr2:184045400-184057800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr2:184045800-184057400	Weak transcription	Fetal Kidney	kidney
12	chr2:184047800-184059600	Weak transcription	Hela-S3	cervix
13	chr2:184047800-184078400	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:184048400-184058400	Strong transcription	Dnd41	blood
15	chr2:184048400-184059000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:184048600-184059800	Weak transcription	Stomach Smooth Muscle	stomach
17	chr2:184048800-184071800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr2:184049000-184058000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:184049000-184062200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr2:184049000-184072000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:184049000-184072600	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:184049000-184078000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:184049400-184059600	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:184049400-184062600	Weak transcription	HMEC	breast
25	chr2:184049600-184057400	Weak transcription	Brain Anterior Caudate	brain
26	chr2:184050200-184057400	Strong transcription	K562	blood
27	chr2:184050400-184091600	Weak transcription	Psoas Muscle	Psoas
28	chr2:184050600-184057600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr2:184050600-184059400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:184050600-184060800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:184050600-184066000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:184050600-184071400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr2:184050800-184058200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr2:184050800-184058400	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:184050800-184058600	Weak transcription	Right Ventricle	heart
36	chr2:184050800-184062400	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:184051000-184058200	Weak transcription	Spleen	Spleen
38	chr2:184051200-184058000	Weak transcription	Fetal Brain Female	brain
39	chr2:184051400-184062600	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr2:184052200-184059800	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr2:184052400-184057600	Weak transcription	Gastric	stomach
42	chr2:184052400-184059200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr2:184052400-184060200	Weak transcription	Fetal Muscle Leg	muscle
44	chr2:184052400-184066200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:184052400-184071400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:184052400-184071400	Weak transcription	Aorta	Aorta
47	chr2:184052600-184057400	Weak transcription	Thymus	Thymus
48	chr2:184052600-184058000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:184053000-184070200	Weak transcription	Brain Germinal Matrix	brain
50	chr2:184053000-184072000	Weak transcription	Left Ventricle	heart

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