Variant report

Variant	rs2235431
Chromosome Location	chr22:29169290-29169291
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 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	chr22:29136431..29140671-chr22:29167494..29170117,5	K562	blood:
4	chr22:29166664..29171376-chr22:29189061..29194611,6	MCF-7	breast:
5	chr22:29168977..29169627-chr7:87505120..87506058,2	Hela-S3	cervix:
6	chr22:29167233..29170944-chr22:29195431..29200472,7	K562	blood:
7	chr22:29138183..29139139-chr22:29168668..29169506,2	Hela-S3	cervix:
8	chr22:29134226..29139597-chr22:29164663..29170736,9	K562	blood:
9	chr22:29135038..29141691-chr22:29167545..29172967,16	MCF-7	breast:
10	chr22:29167147..29172880-chr22:29212986..29217151,7	MCF-7	breast:
11	chr22:29134212..29140528-chr22:29167074..29172462,20	MCF-7	breast:
12	chr22:29167462..29171106-chr22:29208719..29213065,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226471	Chromatin interaction
ENSG00000272858	Chromatin interaction
ENSG00000006634	Chromatin interaction
ENSG00000075303	Chromatin interaction
ENSG00000100219	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000183765	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1222	0.93[EUR][1000 genomes]
rs13056546	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16987024	0.91[EUR][1000 genomes]
rs16987027	0.91[EUR][1000 genomes]
rs2236141	0.90[EUR][1000 genomes]
rs2267131	0.93[EUR][1000 genomes]
rs2269578	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2301428	0.91[EUR][1000 genomes]
rs28458474	0.91[EUR][1000 genomes]
rs2881634	0.88[EUR][1000 genomes]
rs34298044	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34573837	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs34718288	0.93[EUR][1000 genomes]
rs34751572	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35017742	0.91[EUR][1000 genomes]
rs35829597	0.88[EUR][1000 genomes]
rs35905502	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36112964	0.95[EUR][1000 genomes]
rs5752790	0.90[EUR][1000 genomes]
rs5752794	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs5752796	0.92[EUR][1000 genomes]
rs5752802	0.91[EUR][1000 genomes]
rs5752803	0.91[EUR][1000 genomes]
rs5752806	0.91[EUR][1000 genomes]
rs5752811	0.90[EUR][1000 genomes]
rs5752816	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs5762767	0.90[EUR][1000 genomes]
rs5762774	0.90[EUR][1000 genomes]
rs5762780	0.90[EUR][1000 genomes]
rs5762794	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5762809	0.86[EUR][1000 genomes]
rs5762812	1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs5762814	0.91[EUR][1000 genomes]
rs5762816	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5762817	0.91[EUR][1000 genomes]
rs5762818	0.91[EUR][1000 genomes]
rs5762819	0.91[EUR][1000 genomes]
rs5762820	0.91[EUR][1000 genomes]
rs5762821	0.91[EUR][1000 genomes]
rs5762822	0.84[EUR][1000 genomes]
rs5762823	0.91[EUR][1000 genomes]
rs60468718	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs66471734	0.91[EUR][1000 genomes]
rs71327317	0.90[EUR][1000 genomes]
rs71327329	1.00[AFR][1000 genomes]
rs73170633	0.93[EUR][1000 genomes]
rs8184986	0.83[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29168200-29169400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
2	chr22:29168200-29169400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr22:29168200-29169400	Active TSS	Brain Angular Gyrus	brain
4	chr22:29168200-29169400	Active TSS	Brain Cingulate Gyrus	brain
5	chr22:29168200-29169400	Active TSS	Fetal Muscle Leg	muscle
6	chr22:29168200-29169400	Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr22:29168200-29169400	Active TSS	Monocytes-CD14+_RO01746	blood
8	chr22:29168200-29169600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr22:29168200-29169600	Active TSS	Primary T killer memory cells from peripheral blood	blood
10	chr22:29168200-29169600	Active TSS	K562	blood
11	chr22:29168200-29169800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr22:29168200-29169800	Active TSS	Brain Hippocampus Middle	brain
13	chr22:29168200-29169800	Active TSS	Rectal Smooth Muscle	rectum
14	chr22:29168200-29169800	Active TSS	Small Intestine	intestine
15	chr22:29168200-29169800	Active TSS	HSMMtube	muscle
16	chr22:29168200-29170000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr22:29168200-29170000	Active TSS	Right Atrium	heart
18	chr22:29168200-29170400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr22:29168200-29170600	Active TSS	Rectal Mucosa Donor 29	rectum
20	chr22:29168400-29169400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr22:29168400-29169400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr22:29168400-29169400	Active TSS	Primary B cells from cord blood	blood
23	chr22:29168400-29169400	Active TSS	Primary T cells from cord blood	blood
24	chr22:29168400-29169400	Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr22:29168400-29169400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:29168400-29169400	Active TSS	Brain Germinal Matrix	brain
27	chr22:29168400-29169400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr22:29168400-29169400	Active TSS	Fetal Brain Female	brain
29	chr22:29168400-29169400	Active TSS	Rectal Mucosa Donor 31	rectum
30	chr22:29168400-29169400	Active TSS	NH-A	brain
31	chr22:29168400-29169400	Active TSS	Osteobl	bone
32	chr22:29168400-29169600	Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr22:29168400-29169600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr22:29168400-29169600	Active TSS	Colon Smooth Muscle	Colon
35	chr22:29168400-29169600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr22:29168400-29169600	Active TSS	Fetal Kidney	kidney
37	chr22:29168400-29169600	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr22:29168400-29169600	Active TSS	Fetal Lung	lung
39	chr22:29168400-29169800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:29168400-29169800	Active TSS	Colonic Mucosa	Colon
41	chr22:29168400-29169800	Active TSS	Fetal Muscle Trunk	muscle
42	chr22:29168400-29169800	Active TSS	Left Ventricle	heart
43	chr22:29168400-29169800	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr22:29168400-29169800	Active TSS	Stomach Mucosa	stomach
45	chr22:29168400-29169800	Active TSS	Thymus	Thymus
46	chr22:29168400-29170000	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr22:29168400-29170000	Active TSS	HUES6 Cell Line	embryonic stem cell
48	chr22:29168400-29170000	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr22:29168400-29170000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr22:29168400-29170000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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