Variant report

Variant	rs17883144
Chromosome Location	chr22:29139819-29139820
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	E2F4	chr22:29139811-29139898	MCF10A-Er-Src	breast:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr22:29126583..29142031-chr22:29203252..29220632,67	MCF-7	breast:
2	chr22:29134212..29140528-chr22:29167074..29172462,20	MCF-7	breast:
3	chr22:29135038..29141691-chr22:29167545..29172967,16	MCF-7	breast:
4	chr22:29139785..29141422-chr22:29182514..29184632,2	MCF-7	breast:
5	chr22:29136431..29140671-chr22:29167494..29170117,5	K562	blood:
6	chr22:29133437..29141650-chr22:29203240..29216422,34	MCF-7	breast:
7	chr22:29134224..29141746-chr22:29191206..29200044,27	MCF-7	breast:
8	chr22:29074345..29076106-chr22:29137826..29140000,2	K562	blood:
9	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:

No data

Variant related genes	Relation type
CHEK2	TF binding region
ENSG00000272858	Chromatin interaction
ENSG00000226471	Chromatin interaction
ENSG00000159873	Chromatin interaction
ENSG00000100154	Chromatin interaction
ENSG00000100219	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17879734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17880459	0.80[AFR][1000 genomes]
rs17881056	0.80[AFR][1000 genomes]
rs17884212	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885109	0.80[AFR][1000 genomes]
rs17885728	1.00[AFR][1000 genomes];1.00[AMR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29139000-29140000	Weak transcription	Esophagus	oesophagus
2	chr22:29139000-29140000	Weak transcription	Ovary	ovary
3	chr22:29139000-29140600	Weak transcription	Aorta	Aorta
4	chr22:29139000-29141600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr22:29139000-29143200	Weak transcription	Small Intestine	intestine
6	chr22:29139000-29143400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr22:29139200-29140000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr22:29139200-29140000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr22:29139200-29140000	Enhancers	Fetal Heart	heart
10	chr22:29139200-29140000	Weak transcription	Placenta	Placenta
11	chr22:29139200-29140000	Weak transcription	Spleen	Spleen
12	chr22:29139200-29140200	Weak transcription	Psoas Muscle	Psoas
13	chr22:29139200-29140400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:29139200-29140600	Weak transcription	HSMMtube	muscle
15	chr22:29139200-29141800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr22:29139200-29144400	Weak transcription	Right Ventricle	heart
17	chr22:29139200-29146000	Weak transcription	Fetal Brain Male	brain
18	chr22:29139200-29153800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr22:29139400-29140000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr22:29139400-29140000	Weak transcription	Primary B cells from cord blood	blood
21	chr22:29139400-29140000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr22:29139400-29140000	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr22:29139400-29140000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr22:29139400-29140000	Weak transcription	Adipose Nuclei	Adipose
25	chr22:29139400-29140000	Weak transcription	Brain Substantia Nigra	brain
26	chr22:29139400-29140000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr22:29139400-29140000	Weak transcription	Pancreas	Pancrea
28	chr22:29139400-29140400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr22:29139400-29140600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr22:29139400-29140600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr22:29139400-29140800	Genic enhancers	HepG2	liver
32	chr22:29139400-29141800	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr22:29139400-29142800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr22:29139400-29143400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr22:29139400-29144200	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr22:29139400-29145000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chr22:29139400-29145600	Strong transcription	HSMM	muscle
38	chr22:29139400-29149400	Strong transcription	Fetal Muscle Trunk	muscle
39	chr22:29139400-29156400	Weak transcription	Stomach Mucosa	stomach
40	chr22:29139600-29140000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr22:29139600-29140000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:29139600-29140000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr22:29139600-29140000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr22:29139600-29140000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr22:29139600-29140000	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr22:29139600-29140000	Weak transcription	Liver	Liver
47	chr22:29139600-29140000	Genic enhancers	Brain Germinal Matrix	brain
48	chr22:29139600-29140000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:29139600-29140000	Weak transcription	Colonic Mucosa	Colon
50	chr22:29139600-29140000	Genic enhancers	Fetal Intestine Small	intestine

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