Variant report

Variant	rs35621580
Chromosome Location	chr4:650458-650459
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	chr4:650457-650507	HNPCEpiC	eye:	n/a
2	chr4:650457-650507	U87	brain:	n/a
3	chr4:650457-650507	HEEpiC	esophagus:	n/a
4	chr4:650457-650507	LNCaP	prostate:	n/a
5	chr4:650457-650507	ECC-1	luminal epithelium:	n/a
6	chr4:650457-650507	HPAEpiC	pulmonary alveolar:	n/a
7	chr4:650457-650507	SKMC	muscle:	n/a
8	chr4:650457-650507	NHDF-neo	bronchial:	n/a
9	chr4:650457-650507	NB4	blood:	n/a
10	chr4:650457-650507	GM06990	blood:	n/a
11	chr4:650457-650507	PFSK-1	brain:	n/a
12	chr4:650457-650507	HL-60	blood:	n/a
13	chr4:650457-650507	RPTEC	kidney:	n/a
14	chr4:650457-650507	T-47D	breast:	n/a
15	chr4:650457-650507	Jurkat	blood:	n/a
16	chr4:650457-650507	H1-hESC	embryonic stem cell:	embryo
17	chr4:650457-650507	NHBE	bronchial:	n/a
18	chr4:650457-650507	HUVEC	blood vessel:	n/a
19	chr4:650457-650507	HRPEpiC	eye:	n/a
20	chr4:650457-650507	MCF-7	breast:	n/a
21	chr4:650457-650507	HCT-116	colon:	n/a
22	chr4:650457-650507	HepG2	liver:	n/a
23	chr4:650457-650507	GM12878	blood:	n/a
24	chr4:650457-650507	AG09319	gingival:	n/a
25	chr4:650457-650507	AoSMC	blood vessel:	n/a
26	chr4:650457-650507	Hepatocyte	liver:	n/a
27	chr4:650457-650507	AG04449	skin:	fetal
28	chr4:650457-650507	AG10803	skin:	n/a
29	chr4:650457-650507	PANC-1	pancreas:	n/a
30	chr4:650457-650507	PrEC	prostate:	n/a
31	chr4:650457-650507	SK-N-SH	brain:	n/a
32	chr4:650457-650507	HMEC	breast:	n/a
33	chr4:650457-650507	Caco-2	colon:	n/a
34	chr4:650457-650507	AG04450	lung:	fetal
35	chr4:650457-650507	Hela-S3	cervix:	n/a
36	chr4:650457-650507	AG09309	skin:	n/a
37	chr4:650457-650507	HIPEpiC	eye:	n/a
38	chr4:650457-650507	A549	lung:	n/a
39	chr4:650457-650507	GM12892	blood:	n/a
40	chr4:650457-650507	IMR90	lung:	fetal
41	chr4:650457-650507	ProgFib	skin:	n/a
42	chr4:650457-650507	HRE	kidney:	n/a
43	chr4:650457-650507	SK-N-SH_RA	brain:	n/a
44	chr4:650457-650507	CMK	blood:	n/a
45	chr4:650457-650507	BE2_C	brain:	n/a
46	chr4:650457-650507	HCM	heart:	n/a
47	chr4:650457-650507	ovcar-3	ovarian:	n/a
48	chr4:650457-650507	BJ	skin:	n/a
49	chr4:650457-650507	GM12891	blood:	n/a
50	chr4:650457-650507	NT2-D1	testis:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr4:649938..652851-chr4:653641..657433,6	K562	blood:
2	chr4:644162..647846-chr4:649268..652076,4	MCF-7	breast:
3	chr4:642131..644821-chr4:649750..652284,2	MCF-7	breast:
4	chr4:613849..616261-chr4:650426..653017,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242686	CpG island
ENSG00000133256	Chromatin interaction
ENSG00000242686	Chromatin interaction
ENSG00000272927	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10012461	0.85[EUR][1000 genomes]
rs10015198	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10018393	0.85[EUR][1000 genomes]
rs10024575	0.85[EUR][1000 genomes]
rs13101691	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13103955	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13104878	0.87[EUR][1000 genomes]
rs13107526	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13110755	0.87[EUR][1000 genomes]
rs13111179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13114299	0.87[EUR][1000 genomes]
rs13116523	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13117283	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13118033	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13127213	0.96[EUR][1000 genomes]
rs13133935	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13136626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13139052	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13139089	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13143415	0.91[EUR][1000 genomes]
rs13147797	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13150119	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28648408	0.85[EUR][1000 genomes]
rs28654405	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28682363	0.85[EUR][1000 genomes]
rs28687729	1.00[EUR][1000 genomes]
rs28754934	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34053163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34075612	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34094325	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34096984	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34165278	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34293668	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34363025	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34366493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34391278	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34402770	1.00[EUR][1000 genomes]
rs34421911	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34477049	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34568772	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34585712	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34587191	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34698095	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34953355	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34992186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35006826	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35137658	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35158410	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35207129	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35219160	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35270524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35455427	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35535457	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35564967	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35621318	0.87[EUR][1000 genomes]
rs35649145	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35694609	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35732782	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35843044	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35853545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35869797	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35894204	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35896648	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35925646	0.87[EUR][1000 genomes]
rs35935310	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35972513	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36060793	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36117387	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61760239	0.87[EUR][1000 genomes]
rs71602477	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602480	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602481	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602484	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602486	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602489	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602490	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71602492	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71602500	0.87[EUR][1000 genomes]
rs7657809	0.85[EUR][1000 genomes]
rs7672426	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7674091	0.85[EUR][1000 genomes]
rs7674895	0.85[EUR][1000 genomes]
rs7685281	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
14	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv4194	chr4:635316-657212	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv878248	chr4:645300-685993	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	nsv10412	chr4:649291-651178	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv878249	chr4:649639-691026	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
19	esv3407640	chr4:650177-652725	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:631400-657000	Weak transcription	Right Atrium	heart
2	chr4:641800-657000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:642200-652800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr4:642400-654600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:642800-657000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr4:643000-657000	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr4:645800-656800	Weak transcription	Gastric	stomach
8	chr4:646800-650600	Enhancers	Brain Angular Gyrus	brain
9	chr4:647200-651200	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr4:648400-657000	Weak transcription	Right Ventricle	heart
11	chr4:648600-650600	Enhancers	Spleen	Spleen
12	chr4:648800-650800	Enhancers	Brain Cingulate Gyrus	brain
13	chr4:648800-653400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:649000-651000	Enhancers	Brain Hippocampus Middle	brain
15	chr4:649000-652800	Weak transcription	Brain Germinal Matrix	brain
16	chr4:649200-652800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:649200-653000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:649800-651000	Weak transcription	Pancreas	Pancrea
19	chr4:649800-653200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr4:649800-655600	Weak transcription	Thymus	Thymus
21	chr4:650000-650600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr4:650000-653200	Weak transcription	Fetal Brain Female	brain
23	chr4:650000-654000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr4:650000-654200	Enhancers	HepG2	liver
25	chr4:650200-651200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
26	chr4:650200-652800	Weak transcription	Brain Substantia Nigra	brain
27	chr4:650400-650600	Enhancers	Brain Anterior Caudate	brain
28	chr4:650400-651200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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