Variant report

Variant	rs73293181
Chromosome Location	chr10:49535742-49535743
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	chr10:49522636..49524628-chr10:49534736..49536666,2	K562	blood:
2	chr10:49525579..49528605-chr10:49532871..49535905,3	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1542153	1.00[EUR][1000 genomes]
rs1550774	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1881739	0.80[AFR][1000 genomes]
rs2590379	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2590380	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2590387	0.83[AFR][1000 genomes]
rs2698760	0.83[AFR][1000 genomes]
rs2698765	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3730154	1.00[EUR][1000 genomes]
rs41301111	1.00[EUR][1000 genomes]
rs4141840	1.00[EUR][1000 genomes]
rs58181014	0.81[AFR][1000 genomes]
rs59377405	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60467447	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61343950	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7072065	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7073628	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293121	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73293198	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73298383	1.00[EUR][1000 genomes]
rs73300395	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74130210	0.83[EUR][1000 genomes]
rs74130216	1.00[EUR][1000 genomes]
rs7901179	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	nsv895366	chr10:49299274-49576454	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv895368	chr10:49381635-49551560	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv467190	chr10:49402084-49576878	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv550811	chr10:49402084-49576878	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
6	nsv6587	chr10:49526329-49571804	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49515600-49541400	Weak transcription	Lung	lung
2	chr10:49516400-49538400	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr10:49516400-49538800	Weak transcription	Fetal Muscle Trunk	muscle
4	chr10:49516400-49541400	Weak transcription	Right Atrium	heart
5	chr10:49516400-49547200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr10:49516400-49559600	Weak transcription	Rectal Smooth Muscle	rectum
7	chr10:49516600-49538400	Weak transcription	Primary B cells from cord blood	blood
8	chr10:49516600-49538600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr10:49516600-49538600	Weak transcription	Fetal Stomach	stomach
10	chr10:49517800-49544600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr10:49518000-49536000	Weak transcription	Fetal Intestine Small	intestine
12	chr10:49518200-49542200	Weak transcription	HSMM	muscle
13	chr10:49518600-49538400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr10:49518800-49538600	Weak transcription	Fetal Intestine Large	intestine
15	chr10:49518800-49540600	Weak transcription	NHEK	skin
16	chr10:49518800-49542000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:49518800-49544000	Weak transcription	Duodenum Mucosa	Duodenum
18	chr10:49519000-49538600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr10:49519000-49540200	Weak transcription	HMEC	breast
20	chr10:49520200-49549800	Weak transcription	HUVEC	blood vessel
21	chr10:49521000-49536400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:49522800-49539200	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr10:49522800-49550800	Weak transcription	Small Intestine	intestine
24	chr10:49523400-49538400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr10:49523600-49538600	Weak transcription	Colon Smooth Muscle	Colon
26	chr10:49524800-49538400	Weak transcription	Right Ventricle	heart
27	chr10:49525000-49541600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr10:49525400-49538400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr10:49525800-49551800	Weak transcription	Adipose Nuclei	Adipose
30	chr10:49526000-49537200	Weak transcription	Thymus	Thymus
31	chr10:49526000-49538400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr10:49526000-49538400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr10:49526000-49538600	Weak transcription	Fetal Kidney	kidney
34	chr10:49526000-49539600	Weak transcription	Primary B cells from peripheral blood	blood
35	chr10:49526200-49536600	Weak transcription	Dnd41	blood
36	chr10:49526200-49537200	Weak transcription	Fetal Thymus	thymus
37	chr10:49526200-49538400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:49526200-49538400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr10:49526200-49538400	Weak transcription	GM12878-XiMat	blood
40	chr10:49526200-49552000	Weak transcription	NH-A	brain
41	chr10:49526400-49538400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr10:49526400-49538600	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr10:49526600-49538400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr10:49526600-49538600	Weak transcription	Fetal Lung	lung
45	chr10:49526600-49539000	Weak transcription	Fetal Brain Female	brain
46	chr10:49526800-49538400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr10:49528600-49538600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:49529000-49536400	Weak transcription	Primary T helper cells PMA-I stimulated	--
49	chr10:49529000-49538400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr10:49529000-49538400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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