Variant report

Variant	rs928839
Chromosome Location	chr21:37914925-37914926
allele	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	RELA	chr21:37914673-37915457	GM18951	blood:	n/a	n/a
2	POLR2A	chr21:37911021-37915541	GM12878	blood:	n/a	n/a
3	POLR2A	chr21:37912713-37915428	GM19099	blood:	n/a	n/a
4	BCLAF1	chr21:37914614-37915424	GM12878	blood:	n/a	n/a
5	MAZ	chr21:37914731-37915511	GM12878	blood:	n/a	n/a
6	PAX5	chr21:37914875-37915485	GM12878	blood:	n/a	n/a
7	RCOR1	chr21:37914560-37915503	GM12878	blood:	n/a	n/a
8	YY1	chr21:37914717-37914986	GM12878	blood:	n/a	n/a
9	BCLAF1	chr21:37914876-37915504	GM12878	blood:	n/a	n/a
10	STAT1	chr21:37914699-37915499	GM12878	blood:	n/a	chr21:37915316-37915328
11	POLR2A	chr21:37911075-37915418	GM18951	blood:	n/a	n/a
12	USF1	chr21:37914505-37915374	H1-hESC	embryonic stem cell:	n/a	n/a
13	RUNX3	chr21:37914845-37915604	GM12878	blood:	n/a	n/a
14	POLR2A	chr21:37911082-37915521	GM19193	blood:	n/a	n/a
15	MAX	chr21:37914077-37915628	GM12878	blood:	n/a	n/a
16	ATF2	chr21:37914887-37915444	GM12878	blood:	n/a	n/a
17	SMC3	chr21:37913863-37915516	GM12878	blood:	n/a	n/a
18	EBF1	chr21:37914621-37915387	GM12878	blood:	n/a	chr21:37914927-37914938
19	POLR2A	chr21:37911416-37915529	GM12878	blood:	n/a	n/a
20	POLR2A	chr21:37911444-37915444	GM12891	blood:	n/a	n/a
21	EP300	chr21:37914880-37915423	GM12878	blood:	n/a	n/a
22	E2F6	chr21:37914620-37915596	H1-hESC	embryonic stem cell:	n/a	chr21:37915312-37915322
23	POLR2A	chr21:37911407-37915669	GM12878	blood:	n/a	n/a
24	POU2F2	chr21:37914083-37915554	GM12891	blood:	n/a	chr21:37915248-37915255 chr21:37915247-37915257 chr21:37915247-37915258 chr21:37915247-37915256 chr21:37915245-37915257 chr21:37915246-37915256 chr21:37915244-37915259 chr21:37915243-37915261 chr21:37915246-37915256 chr21:37915248-37915256
25	POLR2A	chr21:37912426-37915469	GM12892	blood:	n/a	n/a
26	POLR2A	chr21:37912703-37915446	GM12891	blood:	n/a	n/a
27	POLR2A	chr21:37913904-37915337	GM18526	blood:	n/a	n/a
28	EP300	chr21:37914909-37915370	GM12878	blood:	n/a	n/a
29	MTA3	chr21:37914471-37914945	GM12878	blood:	n/a	n/a
30	BHLHE40	chr21:37913706-37915528	GM12878	blood:	n/a	n/a
31	POLR2A	chr21:37911622-37915390	GM12878	blood:	n/a	n/a
32	SIN3A	chr21:37914702-37915343	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr21:37914868-37915486	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr21:37912891-37915452	GM15510	blood:	n/a	n/a
35	MTA3	chr21:37911981-37915636	GM12878	blood:	n/a	n/a
36	POU2F2	chr21:37913861-37915510	GM12878	blood:	n/a	chr21:37915248-37915255 chr21:37915247-37915257 chr21:37915247-37915258 chr21:37915247-37915256 chr21:37915245-37915257 chr21:37915246-37915256 chr21:37915244-37915259 chr21:37915243-37915261 chr21:37915246-37915256 chr21:37915248-37915256
37	POLR2A	chr21:37914531-37915250	GM12878	blood:	n/a	n/a
38	POLR2A	chr21:37912841-37915370	GM12892	blood:	n/a	n/a
39	POLR2A	chr21:37912879-37915359	GM18505	blood:	n/a	n/a
40	CUX1	chr21:37914713-37915456	GM12878	blood:	n/a	n/a
41	NFIC	chr21:37914489-37915519	GM12878	blood:	n/a	n/a
42	RUNX3	chr21:37914920-37915513	GM12878	blood:	n/a	n/a
43	POLR2A	chr21:37911382-37915486	GM12892	blood:	n/a	n/a
44	CHD2	chr21:37914579-37915490	GM12878	blood:	n/a	n/a
45	EBF1	chr21:37914589-37915360	GM12878	blood:	n/a	chr21:37914927-37914938
46	MXI1	chr21:37913439-37915458	GM12878	blood:	n/a	chr21:37915345-37915354
47	POLR2A	chr21:37911501-37915568	GM12892	blood:	n/a	n/a
48	POLR2A	chr21:37912740-37915479	GM12878	blood:	n/a	n/a
49	CREB1	chr21:37914873-37915513	GM12878	blood:	n/a	n/a
50	ELF1	chr21:37914690-37915512	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr21:37914924-37914974	A549	lung:	n/a
2	chr21:37914924-37914974	SK-N-MC	brain:	n/a
3	chr21:37914924-37914974	AG09319	gingival:	n/a
4	chr21:37914924-37914974	BJ	skin:	n/a
5	chr21:37914924-37914974	HRE	kidney:	n/a
6	chr21:37914924-37914974	BE2_C	brain:	n/a
7	chr21:37914924-37914974	IMR90	lung:	fetal
8	chr21:37914924-37914974	HMEC	breast:	n/a
9	chr21:37914924-37914974	PFSK-1	brain:	n/a
10	chr21:37914924-37914974	K562	blood:	n/a
11	chr21:37914924-37914974	NH-A	brain:	n/a
12	chr21:37914924-37914974	AG04449	skin:	fetal
13	chr21:37914924-37914974	MCF-7	breast:	n/a
14	chr21:37914924-37914974	NB4	blood:	n/a
15	chr21:37914924-37914974	PANC-1	pancreas:	n/a
16	chr21:37914924-37914974	Hela-S3	cervix:	n/a
17	chr21:37914924-37914974	GM06990	blood:	n/a
18	chr21:37914924-37914974	CMK	blood:	n/a
19	chr21:37914924-37914974	HCPEpiC	choroid plexus:	n/a
20	chr21:37914924-37914974	HIPEpiC	eye:	n/a
21	chr21:37914924-37914974	HL-60	blood:	n/a
22	chr21:37914924-37914974	SK-N-SH_RA	brain:	n/a
23	chr21:37914924-37914974	HRPEpiC	eye:	n/a
24	chr21:37914924-37914974	H1-hESC	embryonic stem cell:	embryo
25	chr21:37914924-37914974	U87	brain:	n/a
26	chr21:37914924-37914974	HNPCEpiC	eye:	n/a
27	chr21:37914924-37914974	T-47D	breast:	n/a
28	chr21:37914924-37914974	GM12878	blood:	n/a
29	chr21:37914924-37914974	Jurkat	blood:	n/a
30	chr21:37914924-37914974	Caco-2	colon:	n/a
31	chr21:37914924-37914974	NT2-D1	testis:	n/a
32	chr21:37914924-37914974	HEK293	kidney:	embryo
33	chr21:37914924-37914974	AoSMC	blood vessel:	n/a
34	chr21:37914924-37914974	AG09309	skin:	n/a
35	chr21:37914924-37914974	ProgFib	skin:	n/a
36	chr21:37914924-37914974	AG04450	lung:	fetal
37	chr21:37914924-37914974	NHDF-neo	bronchial:	n/a
38	chr21:37914924-37914974	SAEC	small airway:	n/a
39	chr21:37914924-37914974	HepG2	liver:	n/a
40	chr21:37914924-37914974	SK-N-SH	brain:	n/a
41	chr21:37914924-37914974	MCF10A-Er-Src	breast:	n/a
42	chr21:37914924-37914974	SKMC	muscle:	n/a
43	chr21:37914924-37914974	RPTEC	kidney:	n/a
44	chr21:37914924-37914974	PrEC	prostate:	n/a
45	chr21:37914924-37914974	HCT-116	colon:	n/a
46	chr21:37914924-37914974	ECC-1	luminal epithelium:	n/a
47	chr21:37914924-37914974	NHBE	bronchial:	n/a
48	chr21:37914924-37914974	GM19239	blood:	n/a
49	chr21:37914924-37914974	HAEpiC	amniotic membrane:	n/a
50	chr21:37914924-37914974	HRCEpiC	kidney:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HLCS-4	chr21:37914863-37915153	NONHSAT081977

Variant related genes	Relation type
CLDN14	TF binding region
CLDN14	CpG island

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11088353	0.84[EUR][1000 genomes]
rs11088354	0.84[EUR][1000 genomes]
rs2000547	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2835396	0.80[EUR][1000 genomes]
rs364698	0.83[ASN][1000 genomes]
rs364846	0.83[ASN][1000 genomes]
rs364916	0.84[ASN][1000 genomes]
rs365416	0.83[ASN][1000 genomes]
rs366381	0.83[ASN][1000 genomes]
rs367166	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs371945	0.81[ASN][1000 genomes]
rs372213	0.81[ASN][1000 genomes]
rs375572	0.83[ASN][1000 genomes]
rs375662	0.83[ASN][1000 genomes]
rs376218	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs376590	0.83[ASN][1000 genomes]
rs377160	0.82[ASN][1000 genomes]
rs377284	0.81[ASN][1000 genomes]
rs377527	0.82[ASN][1000 genomes]
rs377574	0.82[ASN][1000 genomes]
rs382635	0.81[ASN][1000 genomes]
rs382937	0.81[ASN][1000 genomes]
rs383609	0.81[ASN][1000 genomes]
rs387842	0.82[ASN][1000 genomes]
rs390432	0.84[ASN][1000 genomes]
rs393851	0.81[ASN][1000 genomes]
rs394087	0.81[ASN][1000 genomes]
rs394110	0.81[ASN][1000 genomes]
rs394211	0.81[ASN][1000 genomes]
rs394565	0.81[ASN][1000 genomes]
rs395383	0.81[ASN][1000 genomes]
rs397691	0.80[ASN][1000 genomes]
rs397990	0.81[ASN][1000 genomes]
rs397996	0.81[ASN][1000 genomes]
rs398591	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs399522	0.81[ASN][1000 genomes]
rs399711	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs400019	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs400267	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs400544	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs404515	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs405901	0.81[ASN][1000 genomes]
rs407095	0.81[ASN][1000 genomes]
rs409231	0.81[ASN][1000 genomes]
rs412775	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs413616	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs413852	0.81[ASN][1000 genomes]
rs415848	0.81[ASN][1000 genomes]
rs416108	0.81[ASN][1000 genomes]
rs416875	0.84[ASN][1000 genomes]
rs417173	0.82[ASN][1000 genomes]
rs417191	0.84[ASN][1000 genomes]
rs419941	0.81[ASN][1000 genomes]
rs420925	0.81[ASN][1000 genomes]
rs425864	0.81[ASN][1000 genomes]
rs428948	0.81[ASN][1000 genomes]
rs429326	0.81[ASN][1000 genomes]
rs431530	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs439888	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs440551	0.82[ASN][1000 genomes]
rs441734	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs443968	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs445103	0.81[ASN][1000 genomes]
rs447759	0.84[ASN][1000 genomes]
rs448014	0.82[ASN][1000 genomes]
rs448332	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs448482	0.81[ASN][1000 genomes]
rs448659	0.81[ASN][1000 genomes]
rs448687	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs448849	0.81[ASN][1000 genomes]
rs449547	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs450183	0.81[ASN][1000 genomes]
rs451163	0.82[ASN][1000 genomes]
rs451243	0.82[ASN][1000 genomes]
rs451370	0.81[ASN][1000 genomes]
rs451614	0.81[ASN][1000 genomes]
rs452072	0.82[ASN][1000 genomes]
rs452081	0.84[ASN][1000 genomes]
rs452107	0.81[ASN][1000 genomes]
rs452128	0.84[ASN][1000 genomes]
rs452583	0.81[ASN][1000 genomes]
rs453539	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7510508	0.80[ASN][1000 genomes]
rs9753924	0.83[EUR][1000 genomes]
rs97959	0.84[ASN][1000 genomes]
rs9976609	0.80[ASN][1000 genomes]
rs9978422	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834090	chr21:37812545-38009542	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1064290	chr21:37878964-37983133	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37912400-37916400	Weak transcription	Pancreas	Pancrea
2	chr21:37914200-37915200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr21:37914400-37915600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr21:37914600-37915000	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
5	chr21:37914600-37915000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr21:37914600-37915000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
7	chr21:37914600-37915200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
8	chr21:37914600-37915200	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr21:37914600-37915200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr21:37914600-37915200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
11	chr21:37914600-37915200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
12	chr21:37914600-37915200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr21:37914600-37915200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr21:37914600-37915200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr21:37914600-37915600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr21:37914600-37915600	Flanking Active TSS	GM12878-XiMat	blood
17	chr21:37914800-37915000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
18	chr21:37914800-37915000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
19	chr21:37914800-37915000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr21:37914800-37915000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr21:37914800-37915000	Bivalent Enhancer	Esophagus	oesophagus
22	chr21:37914800-37915000	Bivalent Enhancer	Fetal Lung	lung
23	chr21:37914800-37915000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
24	chr21:37914800-37915000	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr21:37914800-37915000	Bivalent Enhancer	Fetal Thymus	thymus
26	chr21:37914800-37915000	Bivalent Enhancer	Thymus	Thymus
27	chr21:37914800-37915200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr21:37914800-37915200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
29	chr21:37914800-37915200	Enhancers	Primary hematopoietic stem cells	blood
30	chr21:37914800-37915200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
31	chr21:37914800-37915200	Flanking Bivalent TSS/Enh	Placenta	Placenta
32	chr21:37914800-37915200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
33	chr21:37914800-37915400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr21:37914800-37915400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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