Variant report

Variant	rs2276245
Chromosome Location	chr21:45209714-45209715
allele	C/T
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	POLR2A	chr21:45208685-45210008	HepG2	liver:	n/a	n/a
2	POLR2A	chr21:45208990-45209867	GM19193	blood:	n/a	n/a
3	POLR2A	chr21:45208954-45209941	K562	blood:	n/a	n/a
4	MAX	chr21:45209211-45209792	A549	lung:	n/a	chr21:45209747-45209757 chr21:45209747-45209757
5	CREB1	chr21:45209061-45209885	GM12878	blood:	n/a	n/a
6	SMARCB1	chr21:45209025-45209736	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr21:45209193-45210121	K562	blood:	n/a	n/a
8	POLR2A	chr21:45208843-45209805	U87	brain:	n/a	n/a
9	POLR2A	chr21:45208890-45209856	ECC-1	luminal epithelium:	n/a	n/a
10	MYC	chr21:45209042-45210198	K562	blood:	n/a	chr21:45209747-45209757 chr21:45209747-45209757
11	TAF1	chr21:45208918-45209842	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr21:45208879-45210111	A549	lung:	n/a	chr21:45209747-45209757 chr21:45209747-45209757
13	E2F6	chr21:45209179-45209954	K562	blood:	n/a	chr21:45209332-45209342 chr21:45209305-45209314 chr21:45209703-45209713 chr21:45209811-45209820 chr21:45209257-45209266 chr21:45209251-45209260 chr21:45209245-45209254 chr21:45209812-45209822
14	CTCF	chr21:45208880-45209809	SK-N-SH	brain:	n/a	n/a
15	MAX	chr21:45208889-45210157	HepG2	liver:	n/a	chr21:45209747-45209757 chr21:45209747-45209757
16	MAX	chr21:45208902-45209985	SK-N-SH	brain:	n/a	chr21:45209747-45209757 chr21:45209747-45209757
17	RUNX3	chr21:45208880-45209853	GM12878	blood:	n/a	n/a
18	MYC	chr21:45209068-45209977	NB4	blood:	n/a	chr21:45209747-45209757 chr21:45209747-45209757
19	POLR2A	chr21:45208984-45209836	GM18505	blood:	n/a	n/a
20	CTCF	chr21:45209640-45209790	HFF-Myc	foreskin:	n/a	n/a
21	CREB1	chr21:45208895-45209804	HepG2	liver:	n/a	n/a
22	CREB1	chr21:45209087-45209799	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr21:45209002-45209729	HEK293	kidney:	n/a	n/a
24	POLR2A	chr21:45209011-45209921	K562	blood:	n/a	n/a
25	MAX	chr21:45209023-45209954	HepG2	liver:	n/a	chr21:45209747-45209757 chr21:45209747-45209757
26	EGR1	chr21:45209249-45209778	GM12878	blood:	n/a	chr21:45209383-45209390 chr21:45209251-45209260 chr21:45209644-45209659 chr21:45209257-45209266 chr21:45209694-45209707 chr21:45209648-45209657 chr21:45209651-45209664
27	YY1	chr21:45208992-45209757	GM12878	blood:	n/a	chr21:45209702-45209711 chr21:45209705-45209719 chr21:45209227-45209238 chr21:45209702-45209716 chr21:45209705-45209714 chr21:45209250-45209264 chr21:45209244-45209258
28	POLR2A	chr21:45208976-45209779	PBDE	blood:	n/a	n/a
29	TBL1XR1	chr21:45209089-45209837	K562	blood:	n/a	n/a
30	EGR1	chr21:45209075-45209847	K562	blood:	n/a	chr21:45209383-45209390 chr21:45209251-45209260 chr21:45209644-45209659 chr21:45209257-45209266 chr21:45209810-45209820 chr21:45209694-45209707 chr21:45209648-45209657 chr21:45209651-45209664 chr21:45209245-45209254
31	CREB1	chr21:45208900-45210044	K562	blood:	n/a	n/a
32	CREB1	chr21:45208897-45210135	HepG2	liver:	n/a	n/a
33	POLR2A	chr21:45208995-45209802	ProgFib	skin:	n/a	n/a
34	POLR2A	chr21:45208953-45209945	Hela-S3	cervix:	n/a	n/a
35	HEY1	chr21:45208977-45210008	K562	blood:	n/a	chr21:45209804-45209819
36	PAX5	chr21:45208889-45209870	GM12892	blood:	n/a	chr21:45209263-45209272 chr21:45209301-45209310 chr21:45209265-45209274
37	POLR2A	chr21:45209058-45210038	IMR90	lung:	n/a	n/a
38	YY1	chr21:45209096-45209872	GM12892	blood:	n/a	chr21:45209702-45209711 chr21:45209811-45209822 chr21:45209705-45209719 chr21:45209227-45209238 chr21:45209702-45209716 chr21:45209705-45209714 chr21:45209250-45209264 chr21:45209811-45209820 chr21:45209244-45209258 chr21:45209759-45209773 chr21:45209808-45209822
39	POLR2A	chr21:45208989-45209744	MCF-7	breast:	n/a	n/a
40	EGR1	chr21:45209219-45209822	GM12878	blood:	n/a	chr21:45209383-45209390 chr21:45209251-45209260 chr21:45209644-45209659 chr21:45209257-45209266 chr21:45209810-45209820 chr21:45209694-45209707 chr21:45209648-45209657 chr21:45209651-45209664 chr21:45209245-45209254
41	MTA3	chr21:45208816-45210030	GM12878	blood:	n/a	n/a
42	POLR2A	chr21:45209373-45209737	GM12878	blood:	n/a	n/a
43	POLR2A	chr21:45208939-45209967	GM12878	blood:	n/a	n/a
44	NFIC	chr21:45208992-45209806	ECC-1	luminal epithelium:	n/a	n/a
45	HEY1	chr21:45208894-45209726	HepG2	liver:	n/a	n/a
46	MXI1	chr21:45209028-45209920	HepG2	liver:	n/a	chr21:45209748-45209757 chr21:45209748-45209757
47	MAX	chr21:45208919-45209993	Hela-S3	cervix:	n/a	chr21:45209747-45209757 chr21:45209747-45209757
48	POU2F2	chr21:45209063-45209727	GM12878	blood:	n/a	chr21:45209693-45209705 chr21:45209650-45209662
49	TEAD4	chr21:45209123-45209761	ECC-1	luminal epithelium:	n/a	n/a
50	E2F6	chr21:45208959-45209970	K562	blood:	n/a	chr21:45209332-45209342 chr21:45209305-45209314 chr21:45209703-45209713 chr21:45209811-45209820 chr21:45209257-45209266 chr21:45209251-45209260 chr21:45209245-45209254 chr21:45209812-45209822

No.	Distal block	Cell Line	Cell type
1	chr21:45209410..45212282-chr21:45284427..45288210,3	K562	blood:
2	chr21:45158615..45161441-chr21:45207897..45210708,2	K562	blood:
3	chr21:45159250..45162021-chr21:45208113..45211544,3	MCF-7	breast:
4	chr21:45207339..45211369-chr21:45429720..45433341,4	K562	blood:
5	chr21:45138427..45140484-chr21:45209568..45212113,2	K562	blood:
6	chr21:45141091..45143140-chr21:45208651..45211403,2	K562	blood:
7	chr21:45136894..45141532-chr21:45205840..45211872,8	MCF-7	breast:
8	chr21:45193334..45196312-chr21:45207752..45211007,4	MCF-7	breast:
9	chr21:45209348..45212282-chr21:45284427..45288210,4	K562	blood:
10	chr21:45146427..45148749-chr21:45209148..45210811,2	K562	blood:
11	chr21:45209429..45212325-chr21:45284308..45286024,2	MCF-7	breast:
12	chr21:45138000..45143848-chr21:45206375..45212489,9	MCF-7	breast:
13	chr21:45137509..45139216-chr21:45209353..45211646,2	K562	blood:
14	chr21:45201612..45205256-chr21:45206995..45210818,5	MCF-7	breast:
15	chr21:45076259..45080839-chr21:45207005..45211007,4	MCF-7	breast:

Variant related genes	Relation type
RRP1	TF binding region
ENSG00000160209	Chromatin interaction
ENSG00000234030	Chromatin interaction
ENSG00000160207	Chromatin interaction
ENSG00000160208	Chromatin interaction
ENSG00000160213	Chromatin interaction
ENSG00000160218	Chromatin interaction
ENSG00000160216	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11909913	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11911218	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2096857	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838376	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838379	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2838401	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2838402	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28544397	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3788072	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4566449	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55699458	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55830074	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55889756	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55896634	0.82[EUR][1000 genomes]
rs56177442	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58798239	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58874284	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61028951	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61266401	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62229234	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62230079	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6518321	0.81[AMR][1000 genomes]
rs68106965	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs968578	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9808695	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9979356	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9981458	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
2	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv2830066	chr21:45133868-45258047	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv913879	chr21:45145286-45237039	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv913880	chr21:45145286-45263920	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv913881	chr21:45145286-45267193	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats 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	31 gene(s)	inside rSNPs	diseases
7	nsv470904	chr21:45151045-45258047	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS 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	29 gene(s)	inside rSNPs	diseases
8	nsv913882	chr21:45151874-45370715	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv834107	chr21:45155325-45294546	Enhancers Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
11	nsv520305	chr21:45175958-45246326	Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv834108	chr21:45178037-45369641	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
13	nsv913883	chr21:45191139-45252838	Weak transcription Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
14	nsv913884	chr21:45191139-45255836	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
15	nsv544469	chr21:45194085-45257959	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv913885	chr21:45206355-45249474	Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45208400-45209800	Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr21:45208400-45209800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr21:45208400-45210000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr21:45208400-45210200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr21:45208400-45210800	Active TSS	HSMM	muscle
6	chr21:45208600-45209800	Active TSS	Primary T killer memory cells from peripheral blood	blood
7	chr21:45208600-45209800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr21:45208600-45209800	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr21:45208600-45209800	Active TSS	HepG2	liver
10	chr21:45208600-45210000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr21:45208600-45210000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr21:45208600-45210000	Active TSS	Cortex derived primary cultured neurospheres	brain
13	chr21:45208600-45210000	Active TSS	Brain Angular Gyrus	brain
14	chr21:45208600-45210000	Active TSS	Brain Germinal Matrix	brain
15	chr21:45208600-45210000	Active TSS	Brain Hippocampus Middle	brain
16	chr21:45208600-45210000	Active TSS	Brain Substantia Nigra	brain
17	chr21:45208600-45210000	Active TSS	Duodenum Mucosa	Duodenum
18	chr21:45208600-45210000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr21:45208600-45210000	Active TSS	Fetal Intestine Small	intestine
20	chr21:45208600-45210000	Active TSS	HUVEC	blood vessel
21	chr21:45208600-45210000	Active TSS	NHEK	skin
22	chr21:45208600-45210000	Active TSS	Osteobl	bone
23	chr21:45208600-45210200	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr21:45208600-45210200	Active TSS	Muscle Satellite Cultured Cells	--
25	chr21:45208600-45210200	Active TSS	Fetal Intestine Large	intestine
26	chr21:45208600-45210200	Active TSS	Hela-S3	cervix
27	chr21:45208600-45210200	Active TSS	K562	blood
28	chr21:45208600-45210200	Active TSS	NHLF	lung
29	chr21:45208600-45210400	Active TSS	GM12878-XiMat	blood
30	chr21:45208600-45210400	Active TSS	HSMMtube	muscle
31	chr21:45208600-45210600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:45208600-45210800	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr21:45208600-45210800	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr21:45208600-45210800	Active TSS	A549	lung
35	chr21:45208800-45209800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr21:45208800-45209800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr21:45208800-45209800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
38	chr21:45208800-45209800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
39	chr21:45208800-45209800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr21:45208800-45209800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr21:45208800-45209800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr21:45208800-45209800	Active TSS	Fetal Muscle Leg	muscle
43	chr21:45208800-45209800	Active TSS	Placenta	Placenta
44	chr21:45208800-45209800	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr21:45208800-45209800	Active TSS	Right Ventricle	heart
46	chr21:45208800-45209800	Active TSS	Stomach Smooth Muscle	stomach
47	chr21:45208800-45209800	Active TSS	Thymus	Thymus
48	chr21:45208800-45210000	Active TSS	H1 Cell Line	embryonic stem cell
49	chr21:45208800-45210000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr21:45208800-45210000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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