Variant report

Variant	rs34751572
Chromosome Location	chr22:29170138-29170139
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29165808..29174203-chr22:29186827..29200037,34	MCF-7	breast:
2	chr22:29168270..29171327-chr22:29194850..29198169,6	MCF-7	breast:
3	chr22:29166664..29171376-chr22:29189061..29194611,6	MCF-7	breast:
4	chr22:29167233..29170944-chr22:29195431..29200472,7	K562	blood:
5	chr22:29134226..29139597-chr22:29164663..29170736,9	K562	blood:
6	chr22:29135038..29141691-chr22:29167545..29172967,16	MCF-7	breast:
7	chr22:29167147..29172880-chr22:29212986..29217151,7	MCF-7	breast:
8	chr22:29134212..29140528-chr22:29167074..29172462,20	MCF-7	breast:
9	chr22:29167462..29171106-chr22:29208719..29213065,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000272858	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000183765	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1222	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13053879	0.81[EUR][1000 genomes]
rs13056546	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16987024	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16987027	0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2235431	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2236141	0.92[EUR][1000 genomes]
rs2267131	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2269578	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301428	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28458474	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2881634	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs34206997	0.81[EUR][1000 genomes]
rs34298044	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34573837	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34718288	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34887403	0.82[EUR][1000 genomes]
rs35017742	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35829597	0.90[EUR][1000 genomes]
rs35905502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36112964	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752790	0.92[EUR][1000 genomes]
rs5752794	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752796	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5752802	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752803	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5752806	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5752811	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5752816	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5762767	0.92[EUR][1000 genomes]
rs5762774	0.92[EUR][1000 genomes]
rs5762780	0.92[EUR][1000 genomes]
rs5762794	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5762809	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5762812	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5762814	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5762816	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5762817	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5762818	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5762819	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762820	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762821	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762822	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs5762823	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5762857	0.82[EUR][1000 genomes]
rs60468718	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs66471734	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71327317	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73170633	0.95[EUR][1000 genomes]
rs8184986	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv9895	chr22:29029961-29184277	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29168200-29170400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr22:29168200-29170600	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr22:29168400-29170200	Active TSS	H1 Cell Line	embryonic stem cell
4	chr22:29168400-29170200	Active TSS	A549	lung
5	chr22:29168400-29170200	Active TSS	NHDF-Ad	bronchial
6	chr22:29168400-29170200	Active TSS	NHLF	lung
7	chr22:29168400-29170400	Active TSS	GM12878-XiMat	blood
8	chr22:29168400-29170800	Active TSS	Psoas Muscle	Psoas
9	chr22:29168600-29170200	Active TSS	Duodenum Mucosa	Duodenum
10	chr22:29168600-29170200	Active TSS	Fetal Thymus	thymus
11	chr22:29168600-29170200	Active TSS	Stomach Smooth Muscle	stomach
12	chr22:29168600-29170400	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr22:29168800-29170400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr22:29169200-29170200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr22:29169200-29170200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr22:29169400-29170200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr22:29169600-29170200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr22:29169600-29170200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr22:29169600-29170400	Flanking Active TSS	Dnd41	blood
20	chr22:29169600-29170800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:29169800-29170200	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr22:29169800-29170200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr22:29169800-29170200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:29169800-29170200	Weak transcription	Left Ventricle	heart
25	chr22:29169800-29170400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr22:29169800-29170400	Enhancers	Primary T cells fromperipheralblood	blood
27	chr22:29169800-29170400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr22:29169800-29170400	Enhancers	Fetal Muscle Trunk	muscle
29	chr22:29169800-29170600	Weak transcription	Small Intestine	intestine
30	chr22:29169800-29170800	Weak transcription	Pancreas	Pancrea
31	chr22:29169800-29170800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr22:29169800-29172000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr22:29169800-29172000	Weak transcription	Gastric	stomach
34	chr22:29169800-29172000	Weak transcription	Lung	lung
35	chr22:29169800-29172000	Weak transcription	Spleen	Spleen
36	chr22:29169800-29173000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:29169800-29173600	Weak transcription	Esophagus	oesophagus
38	chr22:29169800-29179600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:29169800-29180000	Weak transcription	Colonic Mucosa	Colon
40	chr22:29169800-29180200	Weak transcription	Stomach Mucosa	stomach
41	chr22:29169800-29190400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr22:29170000-29170200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr22:29170000-29170200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr22:29170000-29170200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr22:29170000-29170200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr22:29170000-29170200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr22:29170000-29170200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
48	chr22:29170000-29170200	Enhancers	Brain Anterior Caudate	brain
49	chr22:29170000-29170200	Enhancers	Brain Germinal Matrix	brain
50	chr22:29170000-29170200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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