Variant report

Variant	rs9621271
Chromosome Location	chr22:31885062-31885063
allele	A/C/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	PAX5	chr22:31885031-31885564	GM12892	blood:	n/a	n/a
2	GATA3	chr22:31884942-31885447	MCF-7	breast:	n/a	n/a
3	POLR2A	chr22:31885039-31886957	GM12878	blood:	n/a	n/a
4	MAX	chr22:31885027-31886858	K562	blood:	n/a	n/a
5	CTCF	chr22:31885000-31885150	GM06990	blood:	n/a	n/a
6	POLR2A	chr22:31884880-31888183	GM12892	blood:	n/a	n/a
7	CTCF	chr22:31885020-31885170	SK-N-SH_RA	brain:	n/a	n/a
8	POLR2A	chr22:31884973-31885268	K562	blood:	n/a	n/a
9	POLR2A	chr22:31885058-31886831	Hela-S3	cervix:	n/a	n/a
10	YY1	chr22:31884976-31885304	GM12878	blood:	n/a	n/a
11	POLR2A	chr22:31884955-31887595	K562	blood:	n/a	n/a
12	GATA3	chr22:31884857-31885317	SH-SY5Y	brain:	n/a	n/a
13	CTCF	chr22:31885060-31885210	Caco-2	colon:	n/a	n/a
14	GATA1	chr22:31884666-31885594	PBDE	blood:	n/a	n/a
15	GATA3	chr22:31884934-31885342	T-47D	breast:	n/a	n/a
16	SIN3AK20	chr22:31884975-31885397	SK-N-SH	brain:	n/a	n/a
17	CTCF	chr22:31885058-31885207	GM12891	blood:	n/a	n/a
18	POLR2A	chr22:31884984-31887127	GM19193	blood:	n/a	n/a
19	CTCF	chr22:31885043-31885235	GM12892	blood:	n/a	n/a
20	UBTF	chr22:31884972-31887054	K562	blood:	n/a	n/a
21	HCFC1	chr22:31884847-31886545	Hela-S3	cervix:	n/a	n/a
22	ZNF143	chr22:31885030-31885419	GM12878	blood:	n/a	n/a
23	MXI1	chr22:31885031-31886857	HepG2	liver:	n/a	n/a
24	GATA3	chr22:31884987-31885238	T-47D	breast:	n/a	n/a
25	CTCF	chr22:31885060-31885210	GM12875	blood:	n/a	n/a
26	RUNX3	chr22:31884839-31885401	GM12878	blood:	n/a	chr22:31885300-31885315
27	POLR2A	chr22:31885040-31886981	GM18526	blood:	n/a	n/a
28	YY1	chr22:31884959-31886881	GM12892	blood:	n/a	chr22:31886208-31886222 chr22:31885899-31885908 chr22:31886110-31886119 chr22:31886068-31886082 chr22:31886206-31886217 chr22:31885656-31885670 chr22:31886107-31886118 chr22:31885711-31885722 chr22:31885894-31885908
29	SIN3AK20	chr22:31884968-31885448	H1-hESC	embryonic stem cell:	n/a	n/a
30	YY1	chr22:31885000-31885310	H1-hESC	embryonic stem cell:	n/a	n/a
31	CTCF	chr22:31885020-31885170	HepG2	liver:	n/a	n/a
32	POLR2A	chr22:31885019-31887059	HUVEC	blood vessel:	n/a	n/a
33	CTCF	chr22:31884980-31885130	NB4	blood:	n/a	n/a
34	MAX	chr22:31884960-31886998	HepG2	liver:	n/a	n/a
35	YY1	chr22:31884985-31885306	SK-N-SH_RA	brain:	n/a	n/a
36	STAT1	chr22:31885035-31885302	GM12878	blood:	n/a	n/a
37	UBTF	chr22:31885033-31886858	K562	blood:	n/a	n/a
38	RAD21	chr22:31884963-31885227	SK-N-SH_RA	brain:	n/a	n/a
39	CTCF	chr22:31885061-31885223	MCF-7	breast:	n/a	n/a
40	CTCF	chr22:31885044-31885246	GM19238	blood:	n/a	n/a
41	ZNF263	chr22:31884982-31887569	HEK293-T-REx	kidney:	n/a	chr22:31886714-31886723 chr22:31885395-31885404 chr22:31886031-31886040
42	CTCF	chr22:31884965-31885132	K562	blood:	n/a	n/a
43	MAZ	chr22:31885020-31886260	Hela-S3	cervix:	n/a	n/a
44	CTCF	chr22:31884980-31885130	HL-60	blood:	n/a	n/a
45	ZBTB7A	chr22:31884900-31886515	ECC-1	luminal epithelium:	n/a	chr22:31885608-31885615 chr22:31885778-31885787
46	POLR2A	chr22:31885036-31885126	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr22:31884470-31886978	GM19099	blood:	n/a	n/a
48	POLR2A	chr22:31884943-31887276	HepG2	liver:	n/a	n/a
49	YY1	chr22:31884884-31886399	HepG2	liver:	n/a	chr22:31886208-31886222 chr22:31885899-31885908 chr22:31886110-31886119 chr22:31886068-31886082 chr22:31886206-31886217 chr22:31885656-31885670 chr22:31886107-31886118 chr22:31885711-31885722 chr22:31885894-31885908
50	ZBTB7A	chr22:31884990-31885470	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31362414..31364814-chr22:31884704..31886596,2	K562	blood:
2	chr22:31884354..31887535-chr22:32340375..32343416,3	MCF-7	breast:
3	chr14:60714772..60717731-chr22:31883101..31885338,2	MCF-7	breast:
4	chr18:12990875..12991863-chr22:31884946..31885786,2	Hela-S3	cervix:
5	22:31864703-31891033..22:31936958-31958600	GM12878	blood:
6	chr22:31739363..31741917-chr22:31884740..31886779,4	MCF-7	breast:
7	chr22:31883675..31887496-chr22:32025240..32029301,5	K562	blood:
8	22:31864703-31891033..22:31930706-31935473	GM12878	blood:
9	22:31864703-31891033..22:32347255-32351014	K562	blood:
10	chr22:31884997..31887735-chr22:32023066..32028730,7	MCF-7	breast:
11	chr22:31884998..31887254-chr22:32026687..32028800,2	K562	blood:
12	chr22:31793990..31796986-chr22:31884678..31887767,3	K562	blood:
13	chr22:31850201..31852811-chr22:31884349..31886700,2	MCF-7	breast:
14	chr22:31884599..31887538-chr22:32147471..32150641,3	K562	blood:
15	chr22:31884421..31887375-chr22:32024434..32026202,2	MCF-7	breast:
16	chr22:31742290..31744009-chr22:31883766..31886602,4	MCF-7	breast:

Variant related genes	Relation type
EIF4ENIF1	TF binding region
ENSG00000254718	Chromatin interaction
ENSG00000238910	Chromatin interaction
ENSG00000213888	Chromatin interaction
ENSG00000101639	Chromatin interaction
ENSG00000240591	Chromatin interaction
ENSG00000128254	Chromatin interaction
ENSG00000133422	Chromatin interaction
ENSG00000185721	Chromatin interaction
ENSG00000128245	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000266969	Chromatin interaction
ENSG00000100614	Chromatin interaction
ENSG00000100150	Chromatin interaction
ENSG00000214093	Chromatin interaction
ENSG00000229169	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000184708	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs10154415	1.00[AMR][1000 genomes]
rs12165610	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12166752	1.00[AMR][1000 genomes]
rs12167269	1.00[AMR][1000 genomes]
rs12167380	1.00[AMR][1000 genomes]
rs12167999	1.00[AMR][1000 genomes]
rs12169596	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12170049	1.00[AMR][1000 genomes]
rs13433570	1.00[AMR][1000 genomes]
rs16989611	1.00[AMR][1000 genomes]
rs16989642	1.00[AMR][1000 genomes]
rs16989647	1.00[AMR][1000 genomes]
rs16989655	1.00[AMR][1000 genomes]
rs28374120	1.00[AMR][1000 genomes]
rs28760352	1.00[AMR][1000 genomes]
rs56662300	1.00[AMR][1000 genomes]
rs5749296	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57955202	1.00[AMR][1000 genomes]
rs60117275	1.00[AMR][1000 genomes]
rs60746452	1.00[AMR][1000 genomes]
rs61049980	1.00[AMR][1000 genomes]
rs73160642	0.82[AFR][1000 genomes]
rs73396245	1.00[AMR][1000 genomes]
rs73396261	1.00[AMR][1000 genomes]
rs73396267	1.00[AMR][1000 genomes]
rs73396277	1.00[AMR][1000 genomes]
rs73396290	1.00[AMR][1000 genomes]
rs73396301	1.00[AMR][1000 genomes]
rs73398213	1.00[AMR][1000 genomes]
rs73398220	1.00[AMR][1000 genomes]
rs7364312	1.00[AMR][1000 genomes]
rs73881392	1.00[AMR][1000 genomes]
rs73881394	1.00[AMR][1000 genomes]
rs73881395	1.00[AMR][1000 genomes]
rs73881396	1.00[AMR][1000 genomes]
rs73881398	1.00[AMR][1000 genomes]
rs9619201	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9619202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9619209	1.00[AMR][1000 genomes]
rs9619213	1.00[AMR][1000 genomes]
rs9619214	1.00[AMR][1000 genomes]
rs9619216	1.00[AMR][1000 genomes]
rs9621273	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621276	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621277	1.00[AMR][1000 genomes]
rs9621281	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621283	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621284	1.00[AMR][1000 genomes]
rs9621293	1.00[AMR][1000 genomes]
rs9621297	1.00[AMR][1000 genomes]
rs9621298	1.00[AMR][1000 genomes]
rs9621306	1.00[AMR][1000 genomes]
rs9621308	1.00[AMR][1000 genomes]
rs9621310	1.00[AMR][1000 genomes]
rs9621314	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063634	chr22:31797004-31921254	Strong transcription Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv459872	chr22:31833759-31977594	Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
3	nsv588894	chr22:31833759-31977594	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
4	nsv1060776	chr22:31869892-31900359	Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3324564	chr22:31884577-31887325	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3348685	chr22:31884652-31887150	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 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	chr22:31884200-31885200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr22:31884200-31885200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:31884200-31885400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:31884200-31886800	Active TSS	GM12878-XiMat	blood
5	chr22:31884400-31885200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
6	chr22:31884400-31885200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
7	chr22:31884400-31885200	Flanking Active TSS	Brain Germinal Matrix	brain
8	chr22:31884400-31885200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr22:31884400-31885200	Flanking Active TSS	Rectal Smooth Muscle	rectum
10	chr22:31884400-31885200	Flanking Active TSS	HUVEC	blood vessel
11	chr22:31884400-31885200	Flanking Active TSS	NH-A	brain
12	chr22:31884400-31885400	Flanking Active TSS	Primary B cells from cord blood	blood
13	chr22:31884400-31885600	Flanking Active TSS	Primary hematopoietic stem cells	blood
14	chr22:31884400-31886800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr22:31884600-31885200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr22:31884600-31885200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
17	chr22:31884600-31885200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr22:31884600-31885200	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr22:31884600-31885200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr22:31884600-31885200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr22:31884600-31885200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:31884600-31885200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr22:31884600-31885200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr22:31884600-31885200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
25	chr22:31884600-31885200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr22:31884600-31885200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr22:31884600-31885200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr22:31884600-31885200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr22:31884600-31885200	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr22:31884600-31885200	Flanking Active TSS	Liver	Liver
31	chr22:31884600-31885200	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr22:31884600-31885200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
33	chr22:31884600-31885200	Flanking Active TSS	Fetal Brain Male	brain
34	chr22:31884600-31885200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
35	chr22:31884600-31885200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr22:31884600-31885200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr22:31884600-31886800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr22:31884600-31886800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr22:31884600-31886800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr22:31884600-31887000	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr22:31884600-31887000	Active TSS	Psoas Muscle	Psoas
42	chr22:31884600-31887000	Active TSS	Right Atrium	heart
43	chr22:31884600-31887200	Active TSS	Colonic Mucosa	Colon
44	chr22:31884600-31887200	Active TSS	Fetal Muscle Trunk	muscle
45	chr22:31884600-31887400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr22:31884800-31885200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:31884800-31885200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr22:31884800-31885400	Active TSS	Stomach Mucosa	stomach
49	chr22:31884800-31886200	Active TSS	Fetal Muscle Leg	muscle
50	chr22:31884800-31886200	Active TSS	Placenta	Placenta

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