Variant report

Variant	rs542554576
Chromosome Location	chr1:46651412-46651413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46597572..46599707-chr1:46650898..46652531,2	K562	blood:
2	chr1:46649178..46652657-chr1:46804646..46808340,3	K562	blood:
3	chr1:46650088..46654431-chr1:46660649..46664517,6	K562	blood:
4	chr1:46593944..46606364-chr1:46632700..46654752,92	MCF-7	breast:
5	chr1:46649532..46653630-chr1:46654229..46657626,5	K562	blood:
6	chr1:46648447..46653398-chr1:46660649..46666552,10	K562	blood:
7	chr1:46651145..46653630-chr1:46655330..46656931,2	K562	blood:

Variant related genes	Relation type
ENSG00000117461	Chromatin interaction
ENSG00000117481	Chromatin interaction
ENSG00000085998	Chromatin interaction
ENSG00000227857	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
2	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
3	nsv1005189	chr1:46335186-46949309	Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv534946	chr1:46335186-46949309	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	esv2761743	chr1:46339858-47026743	Active TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
6	nsv1006747	chr1:46476089-46655484	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv534947	chr1:46476089-46655484	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv1006530	chr1:46544842-46655484	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv534949	chr1:46544842-46655484	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv527878	chr1:46649046-46660295	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	8 gene(s)	inside rSNPs	diseases
11	nsv822520	chr1:46650486-46661701	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46639400-46653800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:46639600-46652800	Weak transcription	Brain Germinal Matrix	brain
3	chr1:46640800-46656400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:46645200-46657800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:46645400-46652200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr1:46645600-46652800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:46645600-46653200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr1:46645600-46653600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:46645600-46658200	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:46645800-46663200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr1:46646000-46652800	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr1:46646000-46653200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr1:46646000-46654400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:46646000-46657600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr1:46646200-46652800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:46647000-46653400	Weak transcription	Fetal Brain Male	brain
17	chr1:46647200-46653000	Weak transcription	Fetal Brain Female	brain
18	chr1:46647400-46651600	Enhancers	Spleen	Spleen
19	chr1:46648000-46653000	Weak transcription	Dnd41	blood
20	chr1:46648400-46652200	Enhancers	Left Ventricle	heart
21	chr1:46648400-46657800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:46648600-46653400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr1:46648800-46651600	Enhancers	Right Ventricle	heart
24	chr1:46648800-46653000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr1:46649000-46652800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:46649200-46651600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr1:46649200-46652200	Enhancers	Esophagus	oesophagus
28	chr1:46649200-46652800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:46649200-46656200	Weak transcription	Aorta	Aorta
30	chr1:46649200-46657600	Weak transcription	Fetal Lung	lung
31	chr1:46649400-46652800	Weak transcription	Colon Smooth Muscle	Colon
32	chr1:46649400-46653400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr1:46649400-46653600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:46649400-46662400	Strong transcription	Fetal Stomach	stomach
35	chr1:46649600-46652800	Weak transcription	Adipose Nuclei	Adipose
36	chr1:46649600-46653000	Weak transcription	Brain Angular Gyrus	brain
37	chr1:46649800-46651600	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr1:46649800-46651800	Genic enhancers	NHEK	skin
39	chr1:46649800-46652800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr1:46649800-46652800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:46649800-46652800	Weak transcription	Placenta	Placenta
42	chr1:46649800-46653000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr1:46649800-46654400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr1:46649800-46655200	Genic enhancers	Fetal Intestine Small	intestine
45	chr1:46649800-46655400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:46649800-46656000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr1:46649800-46659800	Weak transcription	Fetal Heart	heart
48	chr1:46649800-46661400	Weak transcription	Psoas Muscle	Psoas
49	chr1:46649800-46663000	Weak transcription	HUVEC	blood vessel
50	chr1:46650000-46651800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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