Variant report

Variant	rs570967598
Chromosome Location	chr22:29787652-29787653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:29787625-29787675	GM19239	blood:	n/a
2	chr22:29787625-29787675	HEEpiC	esophagus:	n/a
3	chr22:29787625-29787675	HepG2	liver:	n/a
4	chr22:29787625-29787675	IMR90	lung:	fetal
5	chr22:29787625-29787675	GM12878	blood:	n/a
6	chr22:29787625-29787675	HPAEpiC	pulmonary alveolar:	n/a
7	chr22:29787625-29787675	HCPEpiC	choroid plexus:	n/a
8	chr22:29787625-29787675	NHDF-neo	bronchial:	n/a
9	chr22:29787625-29787675	Caco-2	colon:	n/a
10	chr22:29787625-29787675	AG10803	skin:	n/a
11	chr22:29787625-29787675	BJ	skin:	n/a
12	chr22:29787625-29787675	HCF	heart:	n/a
13	chr22:29787625-29787675	LNCaP	prostate:	n/a
14	chr22:29787625-29787675	ECC-1	luminal epithelium:	n/a
15	chr22:29787625-29787675	NH-A	brain:	n/a
16	chr22:29787625-29787675	HIPEpiC	eye:	n/a
17	chr22:29787625-29787675	NB4	blood:	n/a
18	chr22:29787625-29787675	PFSK-1	brain:	n/a
19	chr22:29787625-29787675	AG04449	skin:	fetal
20	chr22:29787625-29787675	NT2-D1	testis:	n/a
21	chr22:29787625-29787675	GM12891	blood:	n/a
22	chr22:29787625-29787675	HMEC	breast:	n/a
23	chr22:29787625-29787675	BE2_C	brain:	n/a
24	chr22:29787625-29787675	HCT-116	colon:	n/a
25	chr22:29787625-29787675	SK-N-MC	brain:	n/a
26	chr22:29787625-29787675	HRPEpiC	eye:	n/a
27	chr22:29787625-29787675	T-47D	breast:	n/a
28	chr22:29787625-29787675	ProgFib	skin:	n/a
29	chr22:29787625-29787675	AG09319	gingival:	n/a
30	chr22:29787625-29787675	Hela-S3	cervix:	n/a
31	chr22:29787625-29787675	SKMC	muscle:	n/a
32	chr22:29787625-29787675	AG04450	lung:	fetal
33	chr22:29787625-29787675	AG09309	skin:	n/a
34	chr22:29787625-29787675	GM06990	blood:	n/a
35	chr22:29787625-29787675	ovcar-3	ovarian:	n/a
36	chr22:29787625-29787675	HEK293	kidney:	embryo
37	chr22:29787625-29787675	HRCEpiC	kidney:	n/a
38	chr22:29787625-29787675	HUVEC	blood vessel:	n/a
39	chr22:29787625-29787675	PrEC	prostate:	n/a
40	chr22:29787625-29787675	K562	blood:	n/a
41	chr22:29787625-29787675	PANC-1	pancreas:	n/a
42	chr22:29787625-29787675	SK-N-SH	brain:	n/a
43	chr22:29787625-29787675	Jurkat	blood:	n/a
44	chr22:29787625-29787675	SK-N-SH_RA	brain:	n/a
45	chr22:29787625-29787675	A549	lung:	n/a
46	chr22:29787625-29787675	HAEpiC	amniotic membrane:	n/a
47	chr22:29787625-29787675	HRE	kidney:	n/a
48	chr22:29787625-29787675	RPTEC	kidney:	n/a
49	chr22:29787625-29787675	HCM	heart:	n/a
50	chr22:29787625-29787675	AoSMC	blood vessel:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29787252..29790791-chr22:29920718..29924086,3	MCF-7	breast:
2	chr22:29786384..29789088-chr22:29790926..29793690,2	K562	blood:
3	chr22:29784558..29786360-chr22:29786552..29791390,4	MCF-7	breast:
4	chr22:29784630..29786169-chr22:29786224..29787893,2	K562	blood:

No data

Variant related genes	Relation type
AP1B1	CpG island
ENSG00000100280	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv2580719	chr22:29759273-29816494	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3498689	chr22:29763576-29812598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3498690	chr22:29763576-29812598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
9	esv3382633	chr22:29764347-29814462	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
10	nsv459868	chr22:29767925-29807855	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv459869	chr22:29767925-29807855	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv588882	chr22:29767925-29807855	Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	esv1802274	chr22:29781844-29790912	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	esv1816859	chr22:29782854-29789813	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	nsv821257	chr22:29783172-29794087	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	esv16905	chr22:29783258-29791250	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	nsv829156	chr22:29783405-29788871	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
20	nsv829157	chr22:29783405-29789515	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
21	nsv829158	chr22:29783405-29789813	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
22	nsv829159	chr22:29783405-29790919	Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
23	nsv829160	chr22:29783405-29791037	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
24	esv10194	chr22:29783647-29794087	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
25	esv1814311	chr22:29783788-29788871	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
26	esv1848443	chr22:29783788-29788871	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
27	esv1792064	chr22:29783788-29789453	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
28	esv1809814	chr22:29783788-29789813	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
29	esv1816350	chr22:29783788-29789813	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
30	esv1850229	chr22:29783788-29789813	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
31	esv1832276	chr22:29783788-29791101	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
32	esv1795963	chr22:29783788-29791490	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
33	esv1846367	chr22:29783788-29791490	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
34	nsv191528	chr22:29786603-29789764	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29785000-29788600	Weak transcription	A549	lung
2	chr22:29785000-29789000	Weak transcription	Fetal Heart	heart
3	chr22:29785000-29791200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:29785200-29788600	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr22:29785200-29789000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr22:29785200-29789000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr22:29785200-29790800	Weak transcription	Brain Anterior Caudate	brain
8	chr22:29785200-29790800	Weak transcription	K562	blood
9	chr22:29785400-29788600	Weak transcription	Fetal Intestine Large	intestine
10	chr22:29785400-29788600	Weak transcription	Fetal Intestine Small	intestine
11	chr22:29785400-29788600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr22:29785400-29788600	Weak transcription	Stomach Mucosa	stomach
13	chr22:29785400-29788800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr22:29785400-29788800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr22:29785400-29788800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr22:29785400-29788800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr22:29785400-29788800	Weak transcription	Liver	Liver
18	chr22:29785400-29788800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr22:29785400-29788800	Weak transcription	Fetal Thymus	thymus
20	chr22:29785400-29788800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr22:29785400-29788800	Weak transcription	GM12878-XiMat	blood
22	chr22:29785400-29789000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr22:29785400-29789000	Weak transcription	Pancreas	Pancrea
24	chr22:29785400-29789000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr22:29785400-29789000	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr22:29785400-29789400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:29785400-29789400	Weak transcription	Placenta	Placenta
28	chr22:29785400-29790600	Weak transcription	Colonic Mucosa	Colon
29	chr22:29785400-29790800	Weak transcription	Primary B cells from cord blood	blood
30	chr22:29785400-29790800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr22:29785400-29790800	Weak transcription	Brain Angular Gyrus	brain
32	chr22:29785400-29790800	Weak transcription	Brain Substantia Nigra	brain
33	chr22:29785400-29790800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr22:29785400-29790800	Weak transcription	Spleen	Spleen
35	chr22:29785400-29791000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr22:29785400-29791200	Weak transcription	Colon Smooth Muscle	Colon
37	chr22:29785400-29791200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr22:29785400-29792200	Weak transcription	Small Intestine	intestine
39	chr22:29785600-29789200	Weak transcription	Primary B cells from peripheral blood	blood
40	chr22:29785600-29790800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr22:29785800-29790800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr22:29785800-29791000	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr22:29786000-29790800	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr22:29786200-29790800	Weak transcription	Dnd41	blood
45	chr22:29787200-29788000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr22:29787200-29788000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr22:29787200-29790000	Enhancers	HepG2	liver
48	chr22:29787400-29788000	Enhancers	Adipose Nuclei	Adipose
49	chr22:29787600-29787800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr22:29787600-29787800	Enhancers	Fetal Muscle Trunk	muscle

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