Variant report

Variant	rs73054649
Chromosome Location	chr1:184922784-184922785
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	chr1:184905184..184907440-chr1:184921171..184922826,2	K562	blood:
2	chr1:184920739..184923489-chr1:184924179..184926335,4	K562	blood:

Extended variants
information (count: 14 )
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]
rs56098980	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58512974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050699	0.91[AMR][1000 genomes]
rs73054655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	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
7	nsv1012048	chr1:184913958-184959967	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184898000-184926200	Weak transcription	Spleen	Spleen
2	chr1:184905600-184923200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:184905800-184923200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr1:184905800-184940200	Weak transcription	Fetal Muscle Trunk	muscle
5	chr1:184907400-184938000	Weak transcription	Gastric	stomach
6	chr1:184909400-184927200	Weak transcription	Psoas Muscle	Psoas
7	chr1:184913800-184922800	Weak transcription	K562	blood
8	chr1:184914000-184928200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:184914200-184923400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:184915600-184928000	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:184915800-184940800	Weak transcription	Primary hematopoietic stem cells	blood
12	chr1:184916600-184926000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:184917000-184923200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:184917000-184923200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:184917000-184923600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr1:184917000-184925000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:184917000-184940200	Weak transcription	Esophagus	oesophagus
18	chr1:184917200-184923400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr1:184917200-184923600	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:184917200-184924400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:184917200-184937400	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr1:184917600-184922800	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr1:184919600-184922800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr1:184920600-184923000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:184921000-184923400	Weak transcription	Aorta	Aorta
26	chr1:184921000-184925000	Weak transcription	Pancreas	Pancrea
27	chr1:184921000-184925000	Weak transcription	Right Atrium	heart
28	chr1:184921200-184923000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:184921400-184923000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:184921600-184923000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:184921600-184925200	Weak transcription	Left Ventricle	heart
32	chr1:184921800-184923000	Enhancers	HMEC	breast
33	chr1:184921800-184923000	Enhancers	NHEK	skin
34	chr1:184922200-184922800	Enhancers	Fetal Heart	heart
35	chr1:184922200-184924000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:184922200-184924000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:184922200-184924200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr1:184922200-184924200	Enhancers	Fetal Intestine Large	intestine
39	chr1:184922400-184924000	Enhancers	Hela-S3	cervix
40	chr1:184922400-184925200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:184922400-184926200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr1:184922600-184923000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:184922600-184923400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr1:184922600-184923400	Enhancers	NHLF	lung
45	chr1:184922600-184923600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr1:184922600-184923800	Enhancers	GM12878-XiMat	blood
47	chr1:184922600-184923800	Enhancers	HUVEC	blood vessel
48	chr1:184922600-184923800	Enhancers	NHDF-Ad	bronchial
49	chr1:184922600-184924000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:184922600-184924000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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