Variant report

Variant	rs6868674
Chromosome Location	chr5:35643634-35643635
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr5:35643561-35643770	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:35643600-35643750	GM12872	blood:	n/a	n/a
3	CTCF	chr5:35643580-35643730	HBMEC	blood vessel:	n/a	n/a
4	CTCF	chr5:35643560-35643710	GM12873	blood:	n/a	n/a
5	CTCF	chr5:35643560-35643710	HMF	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:35625440..35626945-chr5:35641190..35643777,2	MCF-7	breast:

Variant related genes	Relation type
SPEF2	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10512625	1.00[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs16902350	1.00[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs16902352	1.00[CEU][hapmap];0.94[JPT][hapmap];0.81[EUR][1000 genomes]
rs286437	0.94[JPT][hapmap]
rs286439	0.94[JPT][hapmap]
rs286440	0.94[JPT][hapmap]
rs286442	0.94[JPT][hapmap]
rs56326567	0.81[EUR][1000 genomes]
rs56386937	0.83[EUR][1000 genomes]
rs57246001	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57516403	0.81[EUR][1000 genomes]
rs57608183	0.81[EUR][1000 genomes]
rs59058264	0.98[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59891586	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73747486	0.81[EUR][1000 genomes]
rs73747488	0.83[EUR][1000 genomes]
rs73747489	0.81[EUR][1000 genomes]
rs73747491	0.83[EUR][1000 genomes]
rs7710864	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7721708	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][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	nsv525477	chr5:35530905-35792990	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:35618600-35646800	Weak transcription	Spleen	Spleen
2	chr5:35618600-35653800	Weak transcription	Lung	lung
3	chr5:35618600-35678000	Weak transcription	Left Ventricle	heart
4	chr5:35619000-35644200	Weak transcription	Brain Hippocampus Middle	brain
5	chr5:35619000-35651400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr5:35619000-35651600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:35619000-35652000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:35619200-35644000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr5:35619200-35645800	Weak transcription	Small Intestine	intestine
10	chr5:35619200-35646000	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr5:35619200-35649800	Weak transcription	Hela-S3	cervix
12	chr5:35619200-35651400	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:35619400-35652200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr5:35625600-35650000	Weak transcription	Right Ventricle	heart
15	chr5:35627200-35656600	Weak transcription	Osteobl	bone
16	chr5:35630400-35662400	Weak transcription	Aorta	Aorta
17	chr5:35630600-35663400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr5:35630600-35707600	Weak transcription	Pancreas	Pancrea
19	chr5:35632600-35644000	Weak transcription	Brain Angular Gyrus	brain
20	chr5:35632600-35652400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr5:35634800-35644200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:35634800-35644200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr5:35634800-35644600	Weak transcription	Fetal Lung	lung
24	chr5:35634800-35651200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr5:35634800-35651200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr5:35634800-35658200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr5:35634800-35658200	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr5:35634800-35673200	Weak transcription	Brain Anterior Caudate	brain
29	chr5:35635000-35652000	Weak transcription	Fetal Muscle Trunk	muscle
30	chr5:35635400-35651000	Weak transcription	Dnd41	blood
31	chr5:35635600-35648800	Weak transcription	Gastric	stomach
32	chr5:35635600-35651200	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr5:35635600-35660400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr5:35635600-35665400	Weak transcription	Fetal Intestine Small	intestine
35	chr5:35635800-35664000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:35636000-35644600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr5:35636000-35649800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr5:35638000-35643800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr5:35638600-35651600	Weak transcription	Primary T cells from cord blood	blood
40	chr5:35639000-35655600	Weak transcription	Adipose Nuclei	Adipose
41	chr5:35639200-35644400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:35639400-35664600	Weak transcription	Monocytes-CD14+_RO01746	blood
43	chr5:35639800-35644800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:35640600-35644800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:35640600-35664000	Weak transcription	Primary hematopoietic stem cells	blood
46	chr5:35640800-35647200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr5:35641400-35645200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:35641600-35645000	Strong transcription	Ovary	ovary
49	chr5:35642600-35673000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr5:35642800-35645600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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