Variant report

Variant	rs4513431
Chromosome Location	chr3:101170082-101170083
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs13317376	0.83[AMR][1000 genomes]
rs13317377	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4264710	0.82[AMR][1000 genomes]
rs4264711	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6794828	0.81[AMR][1000 genomes]
rs6806203	0.80[AMR][1000 genomes]
rs6809800	0.83[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931417	chr3:100547347-101183844	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4513431	SENP7	cis	Skin Sun Exposed Lower leg	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:101141000-101185600	Weak transcription	Right Ventricle	heart
2	chr3:101146000-101185600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:101158600-101175200	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr3:101160200-101176200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr3:101160200-101185600	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr3:101160200-101210800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr3:101160400-101176000	Weak transcription	Left Ventricle	heart
8	chr3:101160600-101176000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr3:101160600-101183200	Weak transcription	Psoas Muscle	Psoas
10	chr3:101160600-101184000	Weak transcription	Spleen	Spleen
11	chr3:101160600-101185600	Weak transcription	Gastric	stomach
12	chr3:101161400-101172800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr3:101161400-101172800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr3:101161400-101175600	Weak transcription	Fetal Stomach	stomach
15	chr3:101161400-101175600	Weak transcription	Fetal Thymus	thymus
16	chr3:101161400-101176400	Weak transcription	Ovary	ovary
17	chr3:101161400-101176600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:101161400-101183800	Weak transcription	Lung	lung
19	chr3:101161400-101185600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr3:101161400-101196800	Weak transcription	Thymus	Thymus
21	chr3:101161400-101207600	Weak transcription	Aorta	Aorta
22	chr3:101164400-101175600	Weak transcription	Liver	Liver
23	chr3:101164400-101176000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr3:101164400-101185400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr3:101164600-101177400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr3:101164600-101179800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr3:101165000-101175200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr3:101165000-101176000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr3:101165000-101176200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr3:101165200-101173600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr3:101165200-101176200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr3:101165200-101176200	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr3:101165200-101183200	Weak transcription	Fetal Brain Male	brain
34	chr3:101165400-101176000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr3:101165400-101177200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr3:101165400-101185400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr3:101165600-101183200	Weak transcription	Brain Angular Gyrus	brain
38	chr3:101165800-101172800	Weak transcription	Primary T cells fromperipheralblood	blood
39	chr3:101166000-101179400	Weak transcription	Brain Germinal Matrix	brain
40	chr3:101166200-101172800	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr3:101166200-101172800	Weak transcription	Dnd41	blood
42	chr3:101166200-101176000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr3:101166200-101176200	Weak transcription	Primary T cells from cord blood	blood
44	chr3:101166400-101175800	Weak transcription	Fetal Muscle Leg	muscle
45	chr3:101166600-101178400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr3:101167200-101184000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr3:101167400-101172800	Weak transcription	Primary B cells from cord blood	blood
48	chr3:101167400-101177400	Weak transcription	Fetal Lung	lung
49	chr3:101168000-101183000	Weak transcription	Fetal Intestine Small	intestine
50	chr3:101168200-101174400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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