Variant report

Variant	rs72704192
Chromosome Location	chr1:155501548-155501549
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:155501317..155502950-chr1:155508735..155510687,2	K562	blood:
2	chr1:155495388..155497007-chr1:155499838..155502620,2	K562	blood:
3	chr1:155501297..155504131-chr1:155545364..155547431,2	MCF-7	breast:
4	chr1:155499625..155501625-chr1:155533032..155534566,2	MCF-7	breast:
5	chr1:155500208..155503499-chr1:155531030..155534208,3	MCF-7	breast:
6	chr1:155501241..155502950-chr1:155508735..155510284,2	K562	blood:

Variant related genes	Relation type
ENSG00000116539	Chromatin interaction
ENSG00000235919	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs41314549	1.00[AMR][1000 genomes]
rs72704164	1.00[AMR][1000 genomes]
rs72704191	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72706130	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	esv1799856	chr1:155305059-155534616	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv1795662	chr1:155305059-155540660	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	esv1795478	chr1:155334933-155510824	Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	esv1803551	chr1:155334933-155522572	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
7	esv1800974	chr1:155367680-155510824	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv872468	chr1:155413304-155549562	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155452400-155505200	Weak transcription	Placenta	Placenta
2	chr1:155476400-155518200	Weak transcription	HMEC	breast
3	chr1:155477600-155509400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:155478200-155506000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr1:155478400-155510400	Weak transcription	Stomach Mucosa	stomach
6	chr1:155478400-155518200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:155483200-155524400	Weak transcription	Fetal Brain Female	brain
8	chr1:155483400-155528600	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr1:155485200-155505400	Weak transcription	K562	blood
10	chr1:155485200-155506200	Weak transcription	Thymus	Thymus
11	chr1:155488000-155513400	Weak transcription	Fetal Stomach	stomach
12	chr1:155489000-155506000	Weak transcription	A549	lung
13	chr1:155489800-155501800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:155489800-155505800	Weak transcription	Duodenum Mucosa	Duodenum
15	chr1:155489800-155506000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:155489800-155516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:155489800-155529400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:155490000-155513000	Weak transcription	Fetal Muscle Leg	muscle
19	chr1:155490400-155501600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr1:155490400-155506200	Weak transcription	Fetal Intestine Large	intestine
21	chr1:155490600-155504800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr1:155491000-155509400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr1:155491200-155503200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:155491200-155506200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr1:155491200-155521800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:155491400-155505000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr1:155491400-155505800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:155491400-155523400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:155491600-155516200	Weak transcription	NHEK	skin
30	chr1:155492400-155505000	Weak transcription	HUVEC	blood vessel
31	chr1:155493400-155514200	Weak transcription	Gastric	stomach
32	chr1:155493600-155504600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:155493600-155504600	Weak transcription	Right Atrium	heart
34	chr1:155493600-155506000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:155493600-155506200	Weak transcription	Small Intestine	intestine
36	chr1:155494000-155502800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr1:155494600-155504600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:155494600-155505000	Weak transcription	Fetal Intestine Small	intestine
39	chr1:155495000-155503000	Weak transcription	Fetal Thymus	thymus
40	chr1:155495000-155504000	Weak transcription	Primary T cells from cord blood	blood
41	chr1:155495000-155504600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:155495000-155504600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr1:155495000-155504600	Weak transcription	Lung	lung
44	chr1:155496600-155503400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr1:155496600-155509000	Weak transcription	Dnd41	blood
46	chr1:155496600-155518400	Weak transcription	HSMM	muscle
47	chr1:155496600-155529800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr1:155496800-155504000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr1:155497600-155504000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr1:155497800-155505000	Weak transcription	Right Ventricle	heart

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