Variant report

Variant	rs7714121
Chromosome Location	chr5:118797689-118797690
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:118791802..118794472-chr5:118795539..118798491,4	K562	blood:

Variant related genes	Relation type
ENSG00000133835	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10045066	0.80[YRI][hapmap]
rs10066302	0.85[AFR][1000 genomes]
rs10067861	1.00[AMR][1000 genomes]
rs10074704	1.00[AMR][1000 genomes]
rs10478420	1.00[AMR][1000 genomes]
rs12656474	0.83[MKK][hapmap];0.89[YRI][hapmap]
rs3797363	0.80[YRI][hapmap]
rs3822525	1.00[YRI][hapmap]
rs6894991	0.89[YRI][hapmap];0.91[AFR][1000 genomes]
rs6895345	0.80[YRI][hapmap]
rs73235250	1.00[AMR][1000 genomes]
rs73235258	1.00[AMR][1000 genomes]
rs7726779	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	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
2	chr5:118789000-118805400	Weak transcription	Ovary	ovary
3	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
4	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr5:118789200-118803800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:118789200-118803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
10	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr5:118789200-118805600	Weak transcription	Gastric	stomach
12	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr5:118789400-118800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:118789400-118803800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr5:118789400-118805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr5:118789400-118831200	Weak transcription	NH-A	brain
17	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
18	chr5:118789600-118798400	Weak transcription	Adipose Nuclei	Adipose
19	chr5:118789600-118802800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr5:118789600-118804000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr5:118789600-118810600	Weak transcription	Osteobl	bone
22	chr5:118789600-118812000	Weak transcription	A549	lung
23	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr5:118789800-118798000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:118789800-118798800	Weak transcription	NHDF-Ad	bronchial
27	chr5:118789800-118799000	Weak transcription	HMEC	breast
28	chr5:118789800-118803000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr5:118789800-118804000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:118789800-118805000	Weak transcription	Fetal Stomach	stomach
31	chr5:118789800-118805200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr5:118789800-118811000	Weak transcription	Brain Angular Gyrus	brain
33	chr5:118789800-118813800	Weak transcription	Fetal Kidney	kidney
34	chr5:118789800-118814400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:118790000-118797800	Weak transcription	Brain Substantia Nigra	brain
36	chr5:118790000-118804000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr5:118790000-118804200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr5:118790000-118812600	Weak transcription	Fetal Brain Male	brain
39	chr5:118790200-118813400	Weak transcription	Aorta	Aorta
40	chr5:118790400-118801000	Weak transcription	Lung	lung
41	chr5:118791800-118800800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr5:118792400-118815000	Weak transcription	K562	blood
44	chr5:118793200-118799400	Weak transcription	Primary B cells from peripheral blood	blood
45	chr5:118793200-118801000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr5:118793400-118797800	Weak transcription	Fetal Muscle Leg	muscle
47	chr5:118793400-118799800	Weak transcription	Fetal Intestine Large	intestine
48	chr5:118793400-118800800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:118793400-118802400	Weak transcription	Brain Hippocampus Middle	brain
50	chr5:118793400-118802800	Weak transcription	Primary T cells from cord blood	blood

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