Variant report

Variant	rs74072797
Chromosome Location	chr13:49842364-49842365
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	chr13:49835568..49837886-chr13:49841764..49843487,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs56215860	0.81[AFR][1000 genomes]
rs56324393	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57186245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58348334	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58573539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58767585	1.00[AMR][1000 genomes]
rs58769218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59575421	1.00[AMR][1000 genomes]
rs60206634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61061843	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61131788	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61198714	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61242896	1.00[AMR][1000 genomes]
rs7358925	1.00[AMR][1000 genomes]
rs74072778	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072779	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072780	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74072788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074513	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074516	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074518	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74074539	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49823000-49844200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:49823400-49844000	Weak transcription	A549	lung
3	chr13:49823600-49843200	Weak transcription	NHEK	skin
4	chr13:49823800-49855400	Weak transcription	Small Intestine	intestine
5	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
6	chr13:49831200-49845200	Weak transcription	NH-A	brain
7	chr13:49832000-49843000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr13:49832800-49844800	Strong transcription	Dnd41	blood
9	chr13:49832800-49860600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr13:49832800-49862800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr13:49833000-49865600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr13:49833200-49852600	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr13:49833200-49863800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr13:49833200-49866600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr13:49834000-49846400	Weak transcription	Pancreas	Pancrea
16	chr13:49834200-49855600	Weak transcription	Fetal Intestine Small	intestine
17	chr13:49834200-49875200	Weak transcription	Gastric	stomach
18	chr13:49834600-49845600	Weak transcription	Fetal Kidney	kidney
19	chr13:49834600-49867000	Weak transcription	Thymus	Thymus
20	chr13:49834800-49853200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr13:49834800-49873000	Weak transcription	HMEC	breast
22	chr13:49834800-49875400	Weak transcription	Esophagus	oesophagus
23	chr13:49835200-49843800	Weak transcription	NHLF	lung
24	chr13:49835200-49846800	Weak transcription	HepG2	liver
25	chr13:49835400-49862200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:49835600-49843200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr13:49835600-49843600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr13:49835600-49846600	Weak transcription	Brain Cingulate Gyrus	brain
29	chr13:49835600-49846800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr13:49835600-49866800	Weak transcription	Brain Angular Gyrus	brain
31	chr13:49835600-49866800	Weak transcription	Brain Germinal Matrix	brain
32	chr13:49835600-49867000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr13:49835600-49867000	Weak transcription	Fetal Brain Male	brain
34	chr13:49835800-49845600	Weak transcription	Fetal Heart	heart
35	chr13:49835800-49853000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr13:49835800-49863600	Weak transcription	Right Ventricle	heart
37	chr13:49835800-49875200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr13:49835800-49875200	Weak transcription	GM12878-XiMat	blood
39	chr13:49836000-49851800	Weak transcription	Placenta	Placenta
40	chr13:49836000-49866800	Weak transcription	Colon Smooth Muscle	Colon
41	chr13:49836200-49856600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr13:49836200-49866800	Weak transcription	Brain Substantia Nigra	brain
43	chr13:49836600-49866800	Weak transcription	Brain Anterior Caudate	brain
44	chr13:49836600-49867000	Weak transcription	Primary B cells from cord blood	blood
45	chr13:49836600-49867000	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr13:49837000-49844200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:49837000-49852800	Weak transcription	Ovary	ovary
48	chr13:49837600-49858800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr13:49837800-49854600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr13:49837800-49866600	Weak transcription	Fetal Lung	lung

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