Variant report

Variant	rs72704191
Chromosome Location	chr1:155495645-155495646
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	chr1:155495388..155497007-chr1:155499838..155502620,2	K562	blood:
2	chr1:155473489..155475636-chr1:155495216..155497705,2	K562	blood:

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]
rs72704192	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:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155452400-155505200	Weak transcription	Placenta	Placenta
2	chr1:155462800-155497400	Weak transcription	Pancreas	Pancrea
3	chr1:155466600-155500600	Weak transcription	Aorta	Aorta
4	chr1:155470400-155501400	Weak transcription	Fetal Kidney	kidney
5	chr1:155470600-155498600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:155471200-155498800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr1:155474200-155501400	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr1:155476400-155518200	Weak transcription	HMEC	breast
9	chr1:155477600-155509400	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:155478000-155498800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr1:155478200-155506000	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr1:155478400-155497200	Weak transcription	Brain Angular Gyrus	brain
13	chr1:155478400-155510400	Weak transcription	Stomach Mucosa	stomach
14	chr1:155478400-155518200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr1:155478800-155496400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr1:155478800-155497600	Weak transcription	Brain Substantia Nigra	brain
17	chr1:155479400-155499800	Weak transcription	HepG2	liver
18	chr1:155483200-155497400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:155483200-155524400	Weak transcription	Fetal Brain Female	brain
20	chr1:155483400-155496000	Weak transcription	HSMM	muscle
21	chr1:155483400-155497400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:155483400-155497600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:155483400-155528600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr1:155485000-155499000	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:155485200-155505400	Weak transcription	K562	blood
26	chr1:155485200-155506200	Weak transcription	Thymus	Thymus
27	chr1:155485400-155497400	Weak transcription	Fetal Heart	heart
28	chr1:155487800-155498800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr1:155488000-155513400	Weak transcription	Fetal Stomach	stomach
30	chr1:155488800-155497200	Weak transcription	Primary B cells from cord blood	blood
31	chr1:155489000-155498400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:155489000-155506000	Weak transcription	A549	lung
33	chr1:155489800-155496000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:155489800-155497600	Weak transcription	Hela-S3	cervix
35	chr1:155489800-155498600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr1:155489800-155498600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr1:155489800-155498800	Weak transcription	Liver	Liver
38	chr1:155489800-155501800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:155489800-155505800	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:155489800-155506000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:155489800-155516200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr1:155489800-155529400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr1:155490000-155513000	Weak transcription	Fetal Muscle Leg	muscle
44	chr1:155490400-155501600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:155490400-155506200	Weak transcription	Fetal Intestine Large	intestine
46	chr1:155490600-155504800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:155491000-155509400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr1:155491200-155499000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:155491200-155499200	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:155491200-155503200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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