Variant report

Variant	rs699803
Chromosome Location	chr1:75195135-75195136
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:75192924..75196422-chr1:75198121..75200705,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000116791	Chromatin interaction
ENSG00000162623	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs277372	0.81[AFR][1000 genomes]
rs277373	0.81[AFR][1000 genomes]
rs277382	0.81[AFR][1000 genomes]
rs277401	0.81[AFR][1000 genomes]
rs277403	0.81[AFR][1000 genomes]
rs366834	0.81[AFR][1000 genomes]
rs448759	0.81[AFR][1000 genomes]
rs494565	0.81[AFR][1000 genomes]
rs520882	0.81[AFR][1000 genomes]
rs569720	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv871152	chr1:75152186-75197533	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:75167000-75197200	Weak transcription	Right Ventricle	heart
2	chr1:75171000-75197200	Weak transcription	Brain Angular Gyrus	brain
3	chr1:75174800-75198000	Weak transcription	Thymus	Thymus
4	chr1:75175400-75196000	Weak transcription	HSMMtube	muscle
5	chr1:75180000-75196000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr1:75180400-75197200	Weak transcription	Psoas Muscle	Psoas
7	chr1:75183000-75198400	Weak transcription	Fetal Brain Male	brain
8	chr1:75187200-75195400	Weak transcription	HMEC	breast
9	chr1:75187400-75197200	Weak transcription	Stomach Mucosa	stomach
10	chr1:75187800-75197200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr1:75188200-75195800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:75188200-75196000	Weak transcription	HSMM	muscle
13	chr1:75188200-75197200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:75188200-75198000	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:75188400-75195400	Weak transcription	K562	blood
16	chr1:75188400-75196800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:75188400-75197200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr1:75188400-75198000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:75189000-75197200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:75189200-75196400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:75189400-75195400	Weak transcription	NHEK	skin
22	chr1:75189400-75195800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr1:75189400-75197200	Weak transcription	Left Ventricle	heart
24	chr1:75189400-75197400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:75189600-75195800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr1:75189600-75195800	Weak transcription	Colon Smooth Muscle	Colon
27	chr1:75189600-75195800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:75189600-75197200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr1:75189600-75197400	Weak transcription	Brain Hippocampus Middle	brain
30	chr1:75189800-75195400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr1:75189800-75195600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:75189800-75196800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr1:75190000-75195800	Weak transcription	Fetal Kidney	kidney
34	chr1:75190800-75195600	Weak transcription	Primary T helper cells fromperipheralblood	blood
35	chr1:75190800-75196000	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr1:75191200-75195600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:75191400-75197200	Weak transcription	Primary T cells from cord blood	blood
38	chr1:75192000-75197200	Weak transcription	Right Atrium	heart
39	chr1:75192200-75195200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:75192200-75195600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr1:75192200-75196600	Weak transcription	Aorta	Aorta
42	chr1:75192200-75197000	Weak transcription	Fetal Lung	lung
43	chr1:75192200-75197200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr1:75192200-75197200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr1:75192200-75197200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:75192200-75197200	Weak transcription	Colonic Mucosa	Colon
47	chr1:75192200-75197200	Weak transcription	Lung	lung
48	chr1:75192200-75197200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr1:75192200-75197400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:75192200-75197600	Weak transcription	Fetal Muscle Trunk	muscle

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