Variant report

Variant	rs7715491
Chromosome Location	chr5:40841762-40841763
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40755529..40757855-chr5:40840073..40841871,2	K562	blood:
2	chr1:116184240..116184758-chr5:40841642..40842505,2	Hela-S3	cervix:
3	chr5:40755529..40757354-chr5:40840291..40841871,2	K562	blood:

Variant related genes	Relation type
ENSG00000113638	Chromatin interaction
ENSG00000173218	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1070444	1.00[YRI][hapmap]
rs10941528	1.00[YRI][hapmap]
rs1501815	1.00[YRI][hapmap]
rs249411	1.00[JPT][hapmap]
rs249426	1.00[JPT][hapmap]
rs380334	1.00[JPT][hapmap]
rs3805217	1.00[YRI][hapmap]
rs61748216	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61757657	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889131	1.00[AMR][1000 genomes]
rs704034	1.00[YRI][hapmap]
rs7702698	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs837105	1.00[JPT][hapmap]
rs837109	1.00[JPT][hapmap]
rs837119	1.00[JPT][hapmap]

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	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases
2	nsv597877	chr5:40796746-40848803	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40836000-40843600	Weak transcription	Spleen	Spleen
2	chr5:40836000-40852600	Weak transcription	Small Intestine	intestine
3	chr5:40840800-40842800	Active TSS	Adipose Nuclei	Adipose
4	chr5:40841000-40841800	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr5:40841000-40842000	Active TSS	Primary hematopoietic stem cells	blood
6	chr5:40841000-40842000	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:40841000-40842200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr5:40841000-40842200	Active TSS	Primary T cells fromperipheralblood	blood
9	chr5:40841000-40842400	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr5:40841000-40842800	Active TSS	Aorta	Aorta
11	chr5:40841000-40842800	Active TSS	Colon Smooth Muscle	Colon
12	chr5:40841000-40842800	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr5:40841000-40842800	Active TSS	Right Ventricle	heart
14	chr5:40841000-40842800	Active TSS	GM12878-XiMat	blood
15	chr5:40841200-40841800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr5:40841200-40841800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr5:40841200-40841800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr5:40841200-40841800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr5:40841200-40841800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr5:40841200-40841800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:40841200-40841800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:40841200-40841800	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr5:40841200-40841800	Active TSS	Esophagus	oesophagus
24	chr5:40841200-40841800	Active TSS	Lung	lung
25	chr5:40841200-40841800	Active TSS	HSMM	muscle
26	chr5:40841200-40842000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr5:40841200-40842000	Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr5:40841200-40842000	Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr5:40841200-40842200	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
30	chr5:40841200-40842200	Active TSS	Brain Cingulate Gyrus	brain
31	chr5:40841200-40842200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr5:40841200-40842200	Active TSS	Colonic Mucosa	Colon
33	chr5:40841200-40842200	Active TSS	Fetal Intestine Large	intestine
34	chr5:40841200-40842200	Active TSS	Fetal Kidney	kidney
35	chr5:40841200-40842200	Active TSS	Fetal Muscle Leg	muscle
36	chr5:40841200-40842200	Active TSS	Placenta	Placenta
37	chr5:40841200-40842200	Active TSS	Fetal Stomach	stomach
38	chr5:40841200-40842200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr5:40841200-40842200	Active TSS	Rectal Smooth Muscle	rectum
40	chr5:40841200-40842200	Active TSS	A549	lung
41	chr5:40841200-40842200	Active TSS	HepG2	liver
42	chr5:40841200-40842400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:40841200-40842400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr5:40841200-40842400	Active TSS	Brain Anterior Caudate	brain
45	chr5:40841200-40842400	Active TSS	Brain Hippocampus Middle	brain
46	chr5:40841200-40842400	Active TSS	Brain Substantia Nigra	brain
47	chr5:40841200-40842400	Active TSS	Ovary	ovary
48	chr5:40841200-40842600	Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr5:40841200-40842800	Active TSS	Stomach Smooth Muscle	stomach
50	chr5:40841200-40842800	Active TSS	NHDF-Ad	bronchial

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