Variant report

Variant	rs13240484
Chromosome Location	chr7:128805582-128805583
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10239495	0.90[AFR][1000 genomes]
rs13225907	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694579	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2694580	1.00[AMR][1000 genomes]
rs2694581	1.00[AFR][1000 genomes]
rs2718103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4731560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6953587	0.81[AFR][1000 genomes]
rs968367	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829719	chr7:128602992-128810971	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv831127	chr7:128716256-128874691	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128785800-128807400	Weak transcription	Primary T cells from cord blood	blood
2	chr7:128785800-128808000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr7:128790200-128808600	Weak transcription	Right Atrium	heart
4	chr7:128790400-128809000	Weak transcription	Pancreas	Pancrea
5	chr7:128790600-128806600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr7:128790800-128808800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr7:128791000-128808600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:128791200-128807800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:128799400-128806400	Weak transcription	HSMMtube	muscle
10	chr7:128799600-128808000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr7:128799600-128808000	Weak transcription	Left Ventricle	heart
12	chr7:128799600-128808200	Weak transcription	Brain Angular Gyrus	brain
13	chr7:128799800-128805600	Weak transcription	HepG2	liver
14	chr7:128799800-128808000	Weak transcription	Right Ventricle	heart
15	chr7:128799800-128808800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr7:128800000-128808000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:128800000-128808000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:128800200-128807600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:128800200-128807800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr7:128800200-128808200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:128800400-128807400	Weak transcription	Fetal Brain Male	brain
22	chr7:128800400-128807800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr7:128800400-128808600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:128800600-128807000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:128800600-128808200	Weak transcription	Brain Substantia Nigra	brain
26	chr7:128800600-128808400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr7:128800800-128808200	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr7:128800800-128808600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr7:128801000-128807800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:128801000-128808600	Genic enhancers	GM12878-XiMat	blood
31	chr7:128801200-128807800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:128801400-128808200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr7:128801400-128808600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr7:128801600-128808200	Weak transcription	Fetal Kidney	kidney
35	chr7:128801600-128808800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:128802000-128809000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr7:128802200-128806000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:128802200-128808800	Weak transcription	Liver	Liver
39	chr7:128802600-128806600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr7:128802600-128808400	Weak transcription	Fetal Intestine Small	intestine
41	chr7:128802800-128806400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr7:128802800-128806600	Weak transcription	Fetal Stomach	stomach
43	chr7:128802800-128807200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:128802800-128808000	Weak transcription	Fetal Thymus	thymus
45	chr7:128802800-128808000	Weak transcription	Gastric	stomach
46	chr7:128802800-128808000	Weak transcription	Spleen	Spleen
47	chr7:128803000-128808000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr7:128803800-128808200	Weak transcription	Fetal Intestine Large	intestine
49	chr7:128804000-128806000	Strong transcription	Primary B cells from peripheral blood	blood
50	chr7:128804000-128808000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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