Variant report

Variant	rs34718288
Chromosome Location	chr22:29194797-29194798
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29193985-29197159	GM18505	blood:	n/a	n/a
2	POLR2A	chr22:29194786-29197108	HL-60	blood:	n/a	n/a
3	MTA3	chr22:29194772-29195574	GM12878	blood:	n/a	n/a
4	POLR2A	chr22:29194744-29197028	HepG2	liver:	n/a	n/a
5	POLR2A	chr22:29193996-29197046	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:29194779-29197106	HUVEC	blood vessel:	n/a	n/a
7	HEY1	chr22:29194626-29197538	HepG2	liver:	n/a	n/a
8	CHD1	chr22:29194640-29197525	IMR90	lung:	n/a	chr22:29196133-29196143
9	POLR2A	chr22:29194125-29195217	GM12892	blood:	n/a	n/a
10	POLR2A	chr22:29194628-29197219	HepG2	liver:	n/a	n/a
11	POLR2A	chr22:29188106-29198866	HepG2	liver:	n/a	n/a
12	POLR2A	chr22:29192300-29197471	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr22:29194672-29197177	GM12892	blood:	n/a	n/a
14	POLR2A	chr22:29193983-29197093	GM12878	blood:	n/a	n/a
15	POLR2A	chr22:29194578-29198963	HepG2	liver:	n/a	n/a
16	POLR2A	chr22:29194093-29197222	ProgFib	skin:	n/a	n/a
17	POLR2A	chr22:29194613-29194927	GM12878	blood:	n/a	n/a
18	POLR2A	chr22:29194557-29197152	GM18951	blood:	n/a	n/a
19	POLR2A	chr22:29193840-29198990	HepG2	liver:	n/a	n/a
20	POLR2A	chr22:29186949-29198998	MCF-7	breast:	n/a	n/a
21	POLR2A	chr22:29194723-29197073	GM18526	blood:	n/a	n/a
22	POLR2A	chr22:29193950-29197333	IMR90	lung:	n/a	n/a
23	POLR2A	chr22:29194627-29197419	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr22:29194788-29194811	K562	blood:	n/a	n/a
25	SIN3AK20	chr22:29194721-29197203	MCF-7	breast:	n/a	n/a
26	POLR2A	chr22:29194781-29197066	U87	brain:	n/a	n/a
27	RUNX3	chr22:29194760-29195331	GM12878	blood:	n/a	n/a
28	HEY1	chr22:29194590-29198974	HepG2	liver:	n/a	n/a
29	POLR2A	chr22:29193982-29197155	GM19099	blood:	n/a	n/a
30	POLR2A	chr22:29194721-29197128	GM12892	blood:	n/a	n/a
31	POLR2A	chr22:29193909-29197387	GM12891	blood:	n/a	n/a
32	POLR2A	chr22:29194575-29196990	U87	brain:	n/a	n/a
33	POLR2A	chr22:29194741-29196987	Hela-S3	cervix:	n/a	n/a
34	WRNIP1	chr22:29194679-29196098	GM12878	blood:	n/a	n/a
35	POLR2A	chr22:29194608-29196990	U87	brain:	n/a	n/a
36	POLR2A	chr22:29194722-29197332	Hela-S3	cervix:	n/a	n/a
37	MBD4	chr22:29194791-29195903	HepG2	liver:	n/a	n/a
38	MTA3	chr22:29194788-29197104	GM12878	blood:	n/a	n/a
39	POLR2A	chr22:29194756-29197487	HL-60	blood:	n/a	n/a
40	POLR2A	chr22:29187995-29198706	GM12878	blood:	n/a	n/a
41	POLR2A	chr22:29194262-29197154	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr22:29194686-29197027	GM12892	blood:	n/a	n/a
43	POLR2A	chr22:29194676-29197210	K562	blood:	n/a	n/a
44	POLR2A	chr22:29193951-29197132	GM19193	blood:	n/a	n/a

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29194198..29196247-chr22:29670122..29672635,2	MCF-7	breast:
2	chr22:29193866..29196363-chr22:29210020..29211891,2	K562	blood:
3	chr22:29193059..29194942-chr9:140134629..140136835,2	MCF-7	breast:
4	chr22:29193926..29196590-chr22:29426887..29431178,4	K562	blood:
5	chr11:64644723..64647211-chr22:29193469..29195645,2	MCF-7	breast:
6	chr14:36294851..36296838-chr22:29194085..29196864,2	MCF-7	breast:
7	chr22:29193985..29196273-chr8:144688963..144691257,2	MCF-7	breast:
8	chr22:29194507..29196726-chr22:29278986..29282462,3	MCF-7	breast:
9	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:
10	chr22:29194176..29195986-chr22:29434499..29436616,2	MCF-7	breast:
11	chr22:29118802..29121164-chr22:29193533..29196083,2	MCF-7	breast:
12	chr22:29192790..29195000-chr8:144819981..144823300,3	MCF-7	breast:
13	chr16:728991..731297-chr22:29193926..29195510,2	MCF-7	breast:
14	chr22:29194133..29196788-chr22:29662998..29665301,2	MCF-7	breast:
15	chr22:29194663..29197354-chr22:29426484..29429608,3	K562	blood:
16	chr22:28994240..28996811-chr22:29193296..29195303,2	MCF-7	breast:
17	chr22:29193615..29196363-chr22:29210020..29212072,3	K562	blood:
18	chr12:99739936..99741619-chr22:29193076..29195936,2	MCF-7	breast:
19	chr22:29165808..29174203-chr22:29186827..29200037,34	MCF-7	breast:
20	chr22:29134224..29141746-chr22:29191206..29200044,27	MCF-7	breast:
21	chr14:37666223..37668595-chr22:29193745..29195371,2	MCF-7	breast:
22	chr22:29162866..29164935-chr22:29193672..29196119,2	MCF-7	breast:
23	chr17:65820614..65823310-chr22:29194510..29197985,3	MCF-7	breast:
24	chr22:29193593..29195791-chr22:29251610..29254228,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000226471	TF binding region
XBP1	TF binding region
ENSG00000100916	Chromatin interaction
ENSG00000177993	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000272858	Chromatin interaction
ENSG00000100263	Chromatin interaction
ENSG00000104524	Chromatin interaction
ENSG00000188229	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000171634	Chromatin interaction
ENSG00000151338	Chromatin interaction
ENSG00000159873	Chromatin interaction
ENSG00000103266	Chromatin interaction
ENSG00000258938	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000183579	Chromatin interaction
ENSG00000260394	Chromatin interaction
ENSG00000182944	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1222	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053879	0.85[EUR][1000 genomes]
rs13056546	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16987024	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987027	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235431	0.93[EUR][1000 genomes]
rs2236141	0.88[EUR][1000 genomes]
rs2267131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2269578	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301428	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28458474	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881634	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34206997	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34298044	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34573837	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34751572	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35017742	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35829597	0.86[EUR][1000 genomes]
rs35905502	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36112964	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752790	0.88[EUR][1000 genomes]
rs5752794	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5752796	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5752802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752803	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752806	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752811	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752816	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5762767	0.88[EUR][1000 genomes]
rs5762774	0.88[EUR][1000 genomes]
rs5762780	0.88[EUR][1000 genomes]
rs5762794	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762809	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5762812	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762814	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762816	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762817	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762818	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762820	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762822	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762857	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60468718	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66471734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71327317	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170633	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	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
3	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	chr22:29189000-29195000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr22:29189800-29194800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr22:29190200-29195800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr22:29190200-29196200	Transcr. at gene 5' and 3'	Dnd41	blood
5	chr22:29191200-29195000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr22:29191200-29195600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
7	chr22:29191400-29195800	Transcr. at gene 5' and 3'	Liver	Liver
8	chr22:29191800-29194800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr22:29192000-29194800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr22:29192000-29194800	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
11	chr22:29192200-29194800	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr22:29192600-29195000	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
13	chr22:29192600-29196200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr22:29193000-29195000	Weak transcription	Fetal Brain Male	brain
15	chr22:29193000-29195000	Weak transcription	Fetal Brain Female	brain
16	chr22:29193000-29195200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:29193200-29194800	Weak transcription	Fetal Kidney	kidney
18	chr22:29193200-29195000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr22:29193200-29195000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr22:29193200-29195000	Weak transcription	Ovary	ovary
21	chr22:29193200-29195400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:29193200-29198800	Active TSS	Thymus	Thymus
23	chr22:29193400-29194800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr22:29193400-29195000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr22:29193400-29195000	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr22:29193400-29195200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
27	chr22:29193600-29194800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr22:29193600-29194800	Weak transcription	Brain Anterior Caudate	brain
29	chr22:29193600-29194800	Enhancers	Colon Smooth Muscle	Colon
30	chr22:29193600-29195000	Weak transcription	Brain Substantia Nigra	brain
31	chr22:29193600-29195000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr22:29193600-29195000	Active TSS	HepG2	liver
33	chr22:29193600-29195200	Weak transcription	Small Intestine	intestine
34	chr22:29193800-29195200	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
35	chr22:29193800-29195200	Transcr. at gene 5' and 3'	Osteobl	bone
36	chr22:29193800-29195400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr22:29193800-29198200	Active TSS	Pancreas	Pancrea
38	chr22:29194000-29194800	Genic enhancers	Fetal Muscle Leg	muscle
39	chr22:29194000-29194800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr22:29194000-29194800	Genic enhancers	NHDF-Ad	bronchial
41	chr22:29194000-29195000	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
42	chr22:29194000-29195000	Transcr. at gene 5' and 3'	NH-A	brain
43	chr22:29194000-29195200	Enhancers	Primary B cells from peripheral blood	blood
44	chr22:29194000-29195200	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
45	chr22:29194000-29195200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr22:29194000-29195200	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:29194000-29195200	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
48	chr22:29194000-29195200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr22:29194000-29195200	Transcr. at gene 5' and 3'	Placenta	Placenta
50	chr22:29194000-29195600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell

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