Variant report

Variant	rs34042768
Chromosome Location	chr22:29199145-29199146
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr22:29198961-29199183	GM12891	blood:	n/a	n/a
2	CTCF	chr22:29199120-29199270	NB4	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29137710..29139572-chr22:29196791..29200014,3	K562	blood:
2	chr22:29198168..29200461-chr22:29426830..29429555,2	MCF-7	breast:
3	chr20:55204332..55207187-chr22:29196441..29199381,2	MCF-7	breast:
4	chr22:29136182..29138125-chr22:29198308..29199989,2	K562	blood:
5	chr2:191743958..191746252-chr22:29197423..29199172,2	MCF-7	breast:
6	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:
7	chr22:29198007..29200457-chr22:29257019..29258581,2	K562	blood:
8	chr22:29165808..29174203-chr22:29186827..29200037,34	MCF-7	breast:
9	chr22:29167233..29170944-chr22:29195431..29200472,7	K562	blood:
10	chr22:29134224..29141746-chr22:29191206..29200044,27	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC117-1	chr22:29196562-29200517	NONHSAT084656

No data

Variant related genes	Relation type
XBP1	TF binding region
ENSG00000183765	Chromatin interaction
ENSG00000159873	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000177993	Chromatin interaction
ENSG00000115419	Chromatin interaction
ENSG00000087510	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs5997403	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29197000-29199200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:29197000-29205400	Weak transcription	Spleen	Spleen
3	chr22:29197200-29202600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr22:29197200-29204000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr22:29197200-29208200	Weak transcription	Esophagus	oesophagus
6	chr22:29197200-29209800	Weak transcription	Left Ventricle	heart
7	chr22:29197200-29214200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:29197200-29231600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr22:29197400-29214400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr22:29197400-29220400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:29197600-29199200	Flanking Active TSS	Primary T cells from cord blood	blood
12	chr22:29197600-29199200	Flanking Active TSS	Liver	Liver
13	chr22:29197600-29199200	Flanking Active TSS	Dnd41	blood
14	chr22:29197600-29209800	Weak transcription	Ovary	ovary
15	chr22:29197800-29204000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr22:29197800-29214200	Weak transcription	Right Ventricle	heart
17	chr22:29198000-29203800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr22:29198000-29225200	Weak transcription	HSMM	muscle
19	chr22:29198200-29199200	Enhancers	Fetal Intestine Small	intestine
20	chr22:29198200-29203600	Weak transcription	Pancreas	Pancrea
21	chr22:29198200-29204600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:29198200-29218600	Weak transcription	Brain Angular Gyrus	brain
23	chr22:29198400-29199200	Enhancers	Stomach Mucosa	stomach
24	chr22:29198400-29199600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr22:29198400-29204600	Weak transcription	Brain Hippocampus Middle	brain
26	chr22:29198400-29206200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:29198400-29208200	Weak transcription	Fetal Lung	lung
28	chr22:29198400-29208400	Weak transcription	Lung	lung
29	chr22:29198400-29209800	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr22:29198400-29214000	Weak transcription	Colonic Mucosa	Colon
31	chr22:29198400-29214400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr22:29198400-29215600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr22:29198400-29225200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:29198600-29199400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr22:29198600-29199600	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr22:29198600-29199600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr22:29198600-29200000	Weak transcription	Fetal Stomach	stomach
38	chr22:29198600-29200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr22:29198600-29200600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr22:29198600-29200600	Weak transcription	Placenta	Placenta
41	chr22:29198600-29203800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr22:29198600-29203800	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr22:29198600-29204000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:29198600-29204600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr22:29198600-29206800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr22:29198600-29207200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr22:29198600-29207200	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr22:29198600-29210600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr22:29198600-29211200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr22:29198600-29212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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