Variant report

Variant	rs567247072
Chromosome Location	chr1:76219064-76219065
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	chr1:76189684..76191516-chr1:76216756..76219310,2	K562	blood:
2	chr1:76216562..76219255-chr1:76235194..76236750,2	K562	blood:

Variant related genes	Relation type
ENSG00000117054	Chromatin interaction
ENSG00000178193	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	esv3360173	chr1:76219042-76219527	Weak transcription Strong transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76191200-76219600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:76192000-76220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:76192000-76220600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:76192000-76227800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:76192200-76222000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:76193600-76220200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:76193800-76220200	Weak transcription	Fetal Heart	heart
8	chr1:76195600-76219600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:76196000-76222000	Strong transcription	Liver	Liver
10	chr1:76197600-76219400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:76199600-76220400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:76202000-76225000	Weak transcription	Stomach Mucosa	stomach
13	chr1:76203400-76230800	Weak transcription	NHDF-Ad	bronchial
14	chr1:76204800-76229000	Weak transcription	Psoas Muscle	Psoas
15	chr1:76208600-76223800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr1:76208800-76220400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
17	chr1:76208800-76231400	Weak transcription	A549	lung
18	chr1:76208800-76231400	Weak transcription	NHEK	skin
19	chr1:76208800-76231600	Weak transcription	Hela-S3	cervix
20	chr1:76209000-76220200	Weak transcription	Fetal Kidney	kidney
21	chr1:76209000-76230800	Weak transcription	HUVEC	blood vessel
22	chr1:76209000-76230800	Weak transcription	NHLF	lung
23	chr1:76209400-76220400	Weak transcription	Colonic Mucosa	Colon
24	chr1:76210200-76220200	Weak transcription	Right Ventricle	heart
25	chr1:76210200-76220400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr1:76210200-76223000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr1:76210200-76231800	Weak transcription	HSMMtube	muscle
28	chr1:76210400-76219600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:76210400-76219600	Weak transcription	Aorta	Aorta
30	chr1:76210400-76220200	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr1:76210400-76220200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr1:76210600-76220000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:76210600-76220200	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr1:76210600-76220400	Weak transcription	Brain Angular Gyrus	brain
35	chr1:76210600-76220400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:76210600-76220400	Weak transcription	Esophagus	oesophagus
37	chr1:76211200-76220200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr1:76211600-76220200	Weak transcription	Brain Substantia Nigra	brain
39	chr1:76211600-76230800	Weak transcription	HMEC	breast
40	chr1:76213200-76221600	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:76214200-76220200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr1:76214200-76221800	Strong transcription	Adipose Nuclei	Adipose
43	chr1:76214400-76221600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
44	chr1:76215000-76221600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:76215000-76221800	Strong transcription	Primary T cells from cord blood	blood
46	chr1:76215400-76220200	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:76215400-76220400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:76215400-76221600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:76215600-76219200	Strong transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:76215600-76219800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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