Variant report

Variant	rs543757273
Chromosome Location	chr1:76227548-76227549
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:76225609..76234140-chr1:76249320..76256385,15	K562	blood:
2	chr1:76226797..76230209-chr1:76256987..76259479,3	K562	blood:
3	chr1:76225579..76234839-chr1:76250485..76256385,12	K562	blood:
4	chr1:76188926..76192007-chr1:76225372..76229604,4	K562	blood:
5	chr1:76204248..76206118-chr1:76227096..76229498,2	K562	blood:

Variant related genes	Relation type
ENSG00000178193	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000207241	Chromatin interaction
ENSG00000201487	Chromatin interaction
ENSG00000117054	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv830281	chr1:76095292-76251053	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
5	nsv933422	chr1:76226756-76229348	Weak transcription Strong transcription	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
3	chr1:76204800-76229000	Weak transcription	Psoas Muscle	Psoas
4	chr1:76208800-76231400	Weak transcription	A549	lung
5	chr1:76208800-76231400	Weak transcription	NHEK	skin
6	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
7	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
8	chr1:76209000-76230800	Weak transcription	NHLF	lung
9	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
10	chr1:76211600-76230800	Weak transcription	HMEC	breast
11	chr1:76217600-76231400	Weak transcription	Osteobl	bone
12	chr1:76219600-76230600	Weak transcription	Colon Smooth Muscle	Colon
13	chr1:76220800-76228000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:76220800-76229600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:76221200-76229600	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr1:76221200-76229800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:76221200-76230200	Weak transcription	Small Intestine	intestine
18	chr1:76221200-76231400	Weak transcription	Gastric	stomach
19	chr1:76221200-76238400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:76221400-76229000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr1:76221400-76230000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:76221400-76230600	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr1:76221400-76230600	Weak transcription	Colonic Mucosa	Colon
24	chr1:76221400-76231200	Weak transcription	NH-A	brain
25	chr1:76221400-76231400	Weak transcription	Pancreas	Pancrea
26	chr1:76221400-76233200	Weak transcription	Brain Anterior Caudate	brain
27	chr1:76221600-76229000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr1:76221600-76229000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr1:76221600-76229400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:76221600-76230800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:76221600-76230800	Weak transcription	Lung	lung
32	chr1:76221600-76231000	Weak transcription	Aorta	Aorta
33	chr1:76221600-76231000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr1:76221600-76231000	Weak transcription	Right Ventricle	heart
35	chr1:76221600-76231200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:76221600-76231400	Weak transcription	Fetal Heart	heart
37	chr1:76221600-76231400	Weak transcription	Ovary	ovary
38	chr1:76221600-76231400	Weak transcription	HSMM	muscle
39	chr1:76221600-76231600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:76221600-76231600	Weak transcription	Esophagus	oesophagus
41	chr1:76221600-76231800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr1:76221600-76232200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:76221600-76234200	Weak transcription	Thymus	Thymus
44	chr1:76221800-76228600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:76221800-76229400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr1:76221800-76230000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:76221800-76231400	Weak transcription	Primary T cells from cord blood	blood
48	chr1:76221800-76232600	Weak transcription	Fetal Brain Male	brain
49	chr1:76222000-76229400	Weak transcription	Left Ventricle	heart
50	chr1:76222000-76230000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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