Variant report

Variant	rs56098980
Chromosome Location	chr1:184913690-184913691
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:184899033..184900772-chr1:184911381..184914287,2	MCF-7	breast:
2	chr1:184907843..184910496-chr1:184911965..184914982,4	K562	blood:
3	chr1:184913485..184916241-chr1:184919445..184922242,3	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2135736	0.84[EUR][1000 genomes]
rs234090	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234110	0.84[EUR][1000 genomes]
rs58512974	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050699	0.91[AMR][1000 genomes]
rs73054649	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73054655	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv525731	chr1:184812165-185038104	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv872585	chr1:184813885-184986725	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv872586	chr1:184814555-184948689	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
6	nsv872587	chr1:184820832-184986725	Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184898000-184916600	Weak transcription	Esophagus	oesophagus
2	chr1:184898000-184926200	Weak transcription	Spleen	Spleen
3	chr1:184900000-184913800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr1:184900200-184913800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:184902000-184915000	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:184903000-184913800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr1:184903600-184916600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr1:184905600-184923200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:184905800-184921800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:184905800-184923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:184905800-184940200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:184906000-184917000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr1:184907200-184920200	Weak transcription	Pancreas	Pancrea
14	chr1:184907400-184914000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr1:184907400-184914800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:184907400-184916600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr1:184907400-184938000	Weak transcription	Gastric	stomach
18	chr1:184907800-184914000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr1:184909000-184916600	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:184909400-184914200	Weak transcription	Right Atrium	heart
21	chr1:184909400-184916400	Weak transcription	Right Ventricle	heart
22	chr1:184909400-184916800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr1:184909400-184927200	Weak transcription	Psoas Muscle	Psoas
24	chr1:184909800-184915000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:184911000-184914200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:184911600-184916600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:184913000-184913800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:184913000-184913800	Enhancers	K562	blood
29	chr1:184913200-184913800	Enhancers	Aorta	Aorta
30	chr1:184913200-184913800	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr1:184913200-184914000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
32	chr1:184913200-184914000	Enhancers	Fetal Muscle Leg	muscle
33	chr1:184913200-184914800	Enhancers	NHEK	skin
34	chr1:184913200-184917600	Enhancers	Fetal Heart	heart
35	chr1:184913400-184914000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr1:184913400-184914200	Enhancers	Rectal Smooth Muscle	rectum
37	chr1:184913400-184914200	Weak transcription	Stomach Smooth Muscle	stomach
38	chr1:184913400-184914600	Enhancers	GM12878-XiMat	blood
39	chr1:184913400-184915400	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr1:184913400-184917200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr1:184913400-184917200	Enhancers	Colon Smooth Muscle	Colon
42	chr1:184913600-184913800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr1:184913600-184913800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:184913600-184913800	Enhancers	Adipose Nuclei	Adipose
45	chr1:184913600-184914000	Enhancers	Fetal Stomach	stomach
46	chr1:184913600-184915200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:184913600-184916000	Weak transcription	Left Ventricle	heart
48	chr1:184913600-184917200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:184913600-184922200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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