Variant report

Variant	rs17220418
Chromosome Location	chr22:31697842-31697843
allele	C/T
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	MAFF	chr22:31697817-31697938	K562	blood:	n/a	n/a
2	POLR2A	chr22:31697776-31698508	H1-neurons	neurons:	n/a	n/a
3	REST	chr22:31697770-31698521	H1-neurons	neurons:	n/a	chr22:31697845-31697863 chr22:31697844-31697864
4	MAFK	chr22:31697569-31698005	HepG2	liver:	n/a	chr22:31697839-31697854 chr22:31697844-31697855 chr22:31697842-31697856 chr22:31697930-31697944 chr22:31697844-31697855 chr22:31697843-31697854 chr22:31697839-31697855
5	REST	chr22:31697487-31698730	H1-neurons	neurons:	n/a	chr22:31697845-31697863 chr22:31697844-31697864
6	POLR2A	chr22:31697723-31698627	H1-neurons	neurons:	n/a	n/a
7	MAFK	chr22:31697693-31697962	HepG2	liver:	n/a	chr22:31697839-31697854 chr22:31697844-31697855 chr22:31697842-31697856 chr22:31697930-31697944 chr22:31697844-31697855 chr22:31697843-31697854 chr22:31697839-31697855

No.	Distal block	Cell Line	Cell type
1	chr22:31696471..31699232-chr22:31743755..31746050,2	MCF-7	breast:
2	chr22:31688274..31691466-chr22:31695297..31698444,3	K562	blood:
3	chr22:31689966..31691795-chr22:31696089..31697952,2	K562	blood:
4	chr22:31685153..31687311-chr22:31695879..31698536,2	K562	blood:
5	chr22:31697207..31699119-chr22:31737066..31739002,2	K562	blood:
6	chr22:31685491..31688592-chr22:31694891..31698281,3	MCF-7	breast:

Variant related genes	Relation type
RNA5SP496	TF binding region
ENSG00000100100	Chromatin interaction
ENSG00000228839	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11089493	0.88[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs12165685	0.80[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12168242	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12484775	0.88[ASN][1000 genomes]
rs17820958	0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1859677	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2057951	0.81[CHB][hapmap];0.80[ASN][1000 genomes]
rs2073856	0.82[CHB][hapmap];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2073859	0.89[CHB][hapmap];0.84[JPT][hapmap];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2073860	0.88[CHB][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2073861	0.89[CHB][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2074734	0.82[CHB][hapmap]
rs2158779	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2240424	0.81[CHB][hapmap];0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs2240427	0.89[CHB][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2267168	0.87[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.93[ASN][1000 genomes]
rs2283882	0.94[CHB][hapmap];0.90[ASN][1000 genomes]
rs28678535	0.81[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs28872513	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs2899161	0.83[JPT][hapmap]
rs3747153	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3747154	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4293639	0.92[ASN][1000 genomes]
rs5749225	0.82[CHB][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs5749230	0.88[ASN][1000 genomes]
rs5749233	0.87[ASN][1000 genomes]
rs5749235	0.81[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs5749236	0.89[CHB][hapmap];0.84[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs5749239	0.90[ASN][1000 genomes]
rs5749240	0.89[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs5749241	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs5749247	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5749252	0.88[CHB][hapmap];0.84[JPT][hapmap];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5749255	0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs5749257	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5749258	0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5749262	0.85[ASN][1000 genomes]
rs5749263	0.82[ASN][1000 genomes]
rs5753485	0.82[CHB][hapmap];0.84[JPT][hapmap];0.83[YRI][hapmap]
rs5753494	0.81[CHB][hapmap];0.83[JPT][hapmap]
rs5753502	0.81[ASN][1000 genomes]
rs5753506	0.88[ASN][1000 genomes]
rs5753509	0.84[ASN][1000 genomes]
rs5753511	0.88[CHB][hapmap];0.83[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs5753512	0.94[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs5753513	0.87[ASN][1000 genomes]
rs5753516	0.88[CHB][hapmap];0.83[JPT][hapmap];0.91[ASN][1000 genomes]
rs5753519	0.88[CHB][hapmap];0.82[JPT][hapmap];0.82[YRI][hapmap];0.94[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs5753523	0.88[ASN][1000 genomes]
rs5753525	1.00[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5753526	0.89[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5753527	0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5753529	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5753532	0.94[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5753534	0.94[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs5753535	0.88[CHB][hapmap];0.83[JPT][hapmap];0.94[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5753540	0.93[CHB][hapmap];0.82[JPT][hapmap];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5753542	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5753554	0.93[ASN][1000 genomes]
rs5753555	1.00[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5753556	0.88[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs5753561	0.99[ASN][1000 genomes]
rs5753566	0.88[CHB][hapmap];0.83[JPT][hapmap];0.83[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs5753569	0.83[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5753571	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs5753572	0.89[CHB][hapmap];0.84[JPT][hapmap];0.83[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs5753574	0.88[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs57775002	0.91[AFR][1000 genomes]
rs58659480	0.84[ASN][1000 genomes]
rs5994386	0.92[ASN][1000 genomes]
rs5997921	0.88[CHB][hapmap];0.83[JPT][hapmap];0.87[ASN][1000 genomes]
rs5997959	0.81[CHB][hapmap];0.85[ASN][1000 genomes]
rs713619	0.88[CHB][hapmap];0.82[JPT][hapmap];0.91[ASN][1000 genomes]
rs7286926	0.89[CHB][hapmap];0.84[JPT][hapmap];0.94[ASN][1000 genomes]
rs7292620	0.88[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs9619178	0.89[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs9621212	0.81[CHB][hapmap];0.83[JPT][hapmap];0.84[ASN][1000 genomes]
rs9621215	0.88[ASN][1000 genomes]
rs9621220	0.86[ASN][1000 genomes]
rs9621226	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9621236	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9680708	0.87[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058844	chr22:31597104-31725296	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31689400-31709000	Weak transcription	Placenta	Placenta
2	chr22:31690200-31704200	Weak transcription	Primary B cells from peripheral blood	blood
3	chr22:31692600-31709200	Weak transcription	Stomach Mucosa	stomach
4	chr22:31692800-31698400	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr22:31693400-31700800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr22:31693400-31702400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr22:31693400-31709200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr22:31693800-31720000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr22:31694000-31700800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:31694200-31702600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr22:31694600-31698000	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr22:31695000-31703000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr22:31695800-31700000	Weak transcription	Primary T cells from cord blood	blood
14	chr22:31696200-31698000	Enhancers	Adipose Nuclei	Adipose
15	chr22:31696400-31698200	Enhancers	Ovary	ovary
16	chr22:31696400-31698400	Enhancers	Fetal Intestine Small	intestine
17	chr22:31696400-31698800	Enhancers	Fetal Intestine Large	intestine
18	chr22:31697000-31709400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr22:31697200-31698400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr22:31697400-31698400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr22:31697400-31699000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr22:31697400-31702600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr22:31697400-31704800	Weak transcription	Small Intestine	intestine
24	chr22:31697600-31698800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr22:31697800-31698000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr22:31697800-31698200	Enhancers	Pancreatic Islets	Pancreatic Islet
27	chr22:31697800-31698400	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr22:31697800-31698600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr22:31697800-31698600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr22:31697800-31702600	Weak transcription	HepG2	liver

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