Variant report

Variant	rs61833993
Chromosome Location	chr1:227160882-227160883
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EP300	chr1:227160707-227162194	SK-N-SH	brain:	n/a	chr1:227161969-227161983
2	POLR2A	chr1:227160774-227161067	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:227160801-227160906	Gliobla	brain:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:227160866-227160916	HIPEpiC	eye:	n/a
2	chr1:227160866-227160916	U87	brain:	n/a
3	chr1:227160866-227160916	PFSK-1	brain:	n/a
4	chr1:227160866-227160916	ProgFib	skin:	n/a
5	chr1:227160866-227160916	SK-N-SH_RA	brain:	n/a
6	chr1:227160866-227160916	T-47D	breast:	n/a
7	chr1:227160866-227160916	AG04449	skin:	fetal
8	chr1:227160866-227160916	HCT-116	colon:	n/a
9	chr1:227160866-227160916	HUVEC	blood vessel:	n/a
10	chr1:227160866-227160916	SAEC	small airway:	n/a
11	chr1:227160866-227160916	HEEpiC	esophagus:	n/a
12	chr1:227160866-227160916	GM12878	blood:	n/a
13	chr1:227160866-227160916	GM19239	blood:	n/a
14	chr1:227160866-227160916	BJ	skin:	n/a
15	chr1:227160866-227160916	A549	lung:	n/a
16	chr1:227160866-227160916	AG09319	gingival:	n/a
17	chr1:227160866-227160916	PANC-1	pancreas:	n/a
18	chr1:227160866-227160916	HAEpiC	amniotic membrane:	n/a
19	chr1:227160866-227160916	MCF10A-Er-Src	breast:	n/a
20	chr1:227160866-227160916	RPTEC	kidney:	n/a
21	chr1:227160866-227160916	IMR90	lung:	fetal
22	chr1:227160866-227160916	HRCEpiC	kidney:	n/a
23	chr1:227160866-227160916	Hepatocyte	liver:	n/a
24	chr1:227160866-227160916	SK-N-MC	brain:	n/a
25	chr1:227160866-227160916	ovcar-3	ovarian:	n/a
26	chr1:227160866-227160916	GM06990	blood:	n/a
27	chr1:227160866-227160916	NHDF-neo	bronchial:	n/a
28	chr1:227160866-227160916	MCF-7	breast:	n/a
29	chr1:227160866-227160916	HEK293	kidney:	embryo
30	chr1:227160866-227160916	HMEC	breast:	n/a
31	chr1:227160866-227160916	BE2_C	brain:	n/a
32	chr1:227160866-227160916	AG04450	lung:	fetal
33	chr1:227160866-227160916	CMK	blood:	n/a
34	chr1:227160866-227160916	HL-60	blood:	n/a
35	chr1:227160866-227160916	HPAEpiC	pulmonary alveolar:	n/a
36	chr1:227160866-227160916	GM12892	blood:	n/a
37	chr1:227160866-227160916	NT2-D1	testis:	n/a
38	chr1:227160866-227160916	HepG2	liver:	n/a
39	chr1:227160866-227160916	NB4	blood:	n/a
40	chr1:227160866-227160916	ECC-1	luminal epithelium:	n/a
41	chr1:227160866-227160916	HRPEpiC	eye:	n/a
42	chr1:227160866-227160916	GM12891	blood:	n/a
43	chr1:227160866-227160916	HCPEpiC	choroid plexus:	n/a
44	chr1:227160866-227160916	HCF	heart:	n/a
45	chr1:227160866-227160916	Hela-S3	cervix:	n/a
46	chr1:227160866-227160916	SK-N-SH	brain:	n/a
47	chr1:227160866-227160916	Jurkat	blood:	n/a
48	chr1:227160866-227160916	LNCaP	prostate:	n/a
49	chr1:227160866-227160916	AG09309	skin:	n/a
50	chr1:227160866-227160916	NHBE	bronchial:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:227129304..227131078-chr1:227159225..227162079,2	K562	blood:
2	chr1:227156654..227158376-chr1:227160106..227161794,2	K562	blood:
3	chr1:227155411..227157557-chr1:227159728..227161505,2	MCF-7	breast:
4	chr1:227160421..227162343-chr1:227181472..227183178,2	MCF-7	breast:
5	chr1:227160717..227162288-chr1:227169036..227170644,2	K562	blood:
6	chr1:227158478..227161173-chr1:227162691..227164672,2	K562	blood:

No data

Variant related genes	Relation type
ADCK3	TF binding region
ADCK3	CpG island

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11549708	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11799389	1.00[ASN][1000 genomes]
rs11801012	1.00[ASN][1000 genomes]
rs11805012	1.00[ASN][1000 genomes]
rs11806633	1.00[ASN][1000 genomes]
rs12402400	1.00[ASN][1000 genomes]
rs12403978	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12404219	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317490	1.00[ASN][1000 genomes]
rs16846735	0.84[EUR][1000 genomes]
rs17528049	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17528077	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801783	1.00[ASN][1000 genomes]
rs41268741	1.00[ASN][1000 genomes]
rs41268743	1.00[ASN][1000 genomes]
rs41303131	1.00[ASN][1000 genomes]
rs45553032	1.00[ASN][1000 genomes]
rs55811522	1.00[ASN][1000 genomes]
rs55931381	1.00[ASN][1000 genomes]
rs56100227	1.00[ASN][1000 genomes]
rs61515455	1.00[ASN][1000 genomes]
rs61833991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61833999	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834000	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834003	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61834008	1.00[ASN][1000 genomes]
rs61834038	1.00[ASN][1000 genomes]
rs66602251	1.00[ASN][1000 genomes]
rs6680937	1.00[ASN][1000 genomes]
rs6704087	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7535648	1.00[ASN][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	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv873236	chr1:227118912-227173537	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv873237	chr1:227118912-227178948	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv873238	chr1:227118912-227180858	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv520923	chr1:227127618-227178948	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227129000-227162600	Weak transcription	Fetal Kidney	kidney
2	chr1:227131000-227171800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr1:227143400-227161200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:227146400-227162600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:227147000-227177000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr1:227147200-227161000	Weak transcription	Stomach Mucosa	stomach
7	chr1:227148200-227162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr1:227148600-227180800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr1:227149400-227161600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:227152400-227161800	Weak transcription	HSMMtube	muscle
11	chr1:227154200-227164200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:227154400-227161200	Weak transcription	Colonic Mucosa	Colon
13	chr1:227154400-227165800	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:227154400-227294200	Weak transcription	Hela-S3	cervix
15	chr1:227154600-227161200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:227154600-227163200	Weak transcription	Fetal Thymus	thymus
17	chr1:227154800-227176800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:227155000-227161200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr1:227155400-227162000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:227158400-227161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr1:227158400-227161800	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr1:227158400-227162600	Weak transcription	Thymus	Thymus
23	chr1:227158400-227164600	Weak transcription	Dnd41	blood
24	chr1:227158400-227173200	Weak transcription	K562	blood
25	chr1:227158400-227174600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:227158400-227183000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr1:227159000-227161400	Strong transcription	Primary T cells from cord blood	blood
28	chr1:227159000-227175800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:227159400-227161200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:227159600-227161200	Strong transcription	Primary B cells from cord blood	blood
31	chr1:227159800-227161000	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:227159800-227163800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:227159800-227165800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr1:227159800-227174000	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr1:227160000-227161000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr1:227160000-227161200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr1:227160000-227161200	Weak transcription	Fetal Intestine Large	intestine
38	chr1:227160000-227161600	Weak transcription	Fetal Lung	lung
39	chr1:227160000-227161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr1:227160000-227162200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:227160000-227162600	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr1:227160000-227163000	Strong transcription	Primary B cells from peripheral blood	blood
43	chr1:227160000-227173600	Weak transcription	A549	lung
44	chr1:227160000-227174400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr1:227160000-227174400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:227160000-227174800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:227160000-227177200	Weak transcription	GM12878-XiMat	blood
48	chr1:227160200-227161800	Enhancers	HepG2	liver
49	chr1:227160200-227162000	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr1:227160200-227162200	Enhancers	Rectal Smooth Muscle	rectum

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