Variant report

Variant	rs17881056
Chromosome Location	chr22:29136233-29136234
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29136220-29136502	K562	blood:	n/a	n/a
2	YY1	chr22:29136174-29136455	H1-hESC	embryonic stem cell:	n/a	chr22:29136294-29136306 chr22:29136313-29136325
3	ARID3A	chr22:29136182-29136698	K562	blood:	n/a	n/a
4	YY1	chr22:29136204-29136459	K562	blood:	n/a	chr22:29136294-29136306 chr22:29136313-29136325
5	YY1	chr22:29136162-29136480	GM12878	blood:	n/a	chr22:29136294-29136306 chr22:29136313-29136325
6	YY1	chr22:29136120-29136484	K562	blood:	n/a	chr22:29136294-29136306 chr22:29136313-29136325
7	TEAD4	chr22:29136184-29136742	K562	blood:	n/a	n/a

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	chr22:29133133..29134961-chr22:29136110..29137715,2	K562	blood:
5	chr22:29134319..29139472-chr22:29186598..29194420,8	K562	blood:
6	chr22:29134226..29139597-chr22:29164663..29170736,9	K562	blood:
7	chr22:29133437..29141650-chr22:29203240..29216422,34	MCF-7	breast:
8	chr22:29134224..29141746-chr22:29191206..29200044,27	MCF-7	breast:
9	chr22:29117650..29119944-chr22:29134388..29136343,2	MCF-7	breast:
10	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:

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

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs17879734	0.80[AFR][1000 genomes]
rs17880353	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs17880459	1.00[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17882607	0.82[AFR][1000 genomes]
rs17883144	0.80[AFR][1000 genomes]
rs17884212	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs17885109	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17885728	0.80[AFR][1000 genomes]
rs17885892	0.82[AFR][1000 genomes]
rs35255776	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3788408	0.82[AFR][1000 genomes]
rs5762814	1.00[YRI][hapmap]
rs8138111	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9620817	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv513775	chr22:29083731-29137822	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29076200-29137600	Weak transcription	Esophagus	oesophagus
2	chr22:29082800-29137600	Weak transcription	Spleen	Spleen
3	chr22:29090600-29137200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:29090600-29137200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr22:29100400-29137200	Weak transcription	Pancreas	Pancrea
6	chr22:29105600-29137200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr22:29107600-29136800	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr22:29108400-29137200	Weak transcription	Right Atrium	heart
9	chr22:29109000-29137000	Weak transcription	HMEC	breast
10	chr22:29109000-29137200	Weak transcription	Liver	Liver
11	chr22:29109000-29137200	Weak transcription	HSMM	muscle
12	chr22:29111200-29136600	Weak transcription	HUVEC	blood vessel
13	chr22:29112000-29137600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:29117200-29136800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr22:29117200-29137200	Weak transcription	NHLF	lung
16	chr22:29118000-29137600	Weak transcription	Ovary	ovary
17	chr22:29118200-29137200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr22:29119400-29137200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr22:29119800-29137200	Weak transcription	A549	lung
20	chr22:29120000-29137200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr22:29121200-29137400	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr22:29121400-29137200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr22:29121600-29136600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr22:29121800-29137200	Weak transcription	Placenta	Placenta
25	chr22:29123400-29137200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr22:29125000-29137200	Weak transcription	NHDF-Ad	bronchial
27	chr22:29125400-29137200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr22:29125600-29137200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr22:29126200-29136600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr22:29126800-29137400	Weak transcription	Gastric	stomach
31	chr22:29127400-29137400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr22:29129600-29136800	Weak transcription	Primary B cells from cord blood	blood
33	chr22:29129600-29137200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr22:29130200-29137200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr22:29130400-29136600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:29130400-29137200	Weak transcription	Fetal Muscle Leg	muscle
37	chr22:29130600-29136800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr22:29130600-29136800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr22:29130600-29136800	Weak transcription	Fetal Thymus	thymus
40	chr22:29130600-29137000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr22:29130600-29137200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr22:29130600-29137200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:29130600-29137200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr22:29130600-29137200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr22:29130600-29137200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr22:29130600-29137200	Weak transcription	Fetal Stomach	stomach
47	chr22:29130600-29137400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:29130600-29137400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr22:29130800-29136600	Weak transcription	NHEK	skin
50	chr22:29130800-29136800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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