Variant report

Variant	rs8130214
Chromosome Location	chr21:37670276-37670277
allele	G/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	EBF1	chr21:37669785-37670832	GM12878	blood:	n/a	n/a
2	PML	chr21:37670274-37671023	GM12878	blood:	n/a	n/a
3	MAX	chr21:37670091-37670868	GM12878	blood:	n/a	n/a
4	POLR2A	chr21:37669977-37670853	MCF-7	breast:	n/a	n/a
5	POLR2A	chr21:37670200-37670921	Raji	blood:	n/a	n/a
6	POLR2A	chr21:37670152-37671037	GM12892	blood:	n/a	n/a
7	IRF4	chr21:37670052-37670882	GM12878	blood:	n/a	chr21:37670544-37670558
8	POLR2A	chr21:37670016-37670957	GM12892	blood:	n/a	n/a
9	RUNX3	chr21:37669624-37670986	GM12878	blood:	n/a	n/a
10	MYC	chr21:37670229-37670845	K562	blood:	n/a	n/a
11	BHLHE40	chr21:37670235-37670874	K562	blood:	n/a	chr21:37670697-37670713
12	EP300	chr21:37669939-37670868	GM12878	blood:	n/a	chr21:37670363-37670376 chr21:37670683-37670692
13	POLR2A	chr21:37670245-37670874	K562	blood:	n/a	n/a
14	MTA3	chr21:37669862-37670977	GM12878	blood:	n/a	n/a
15	USF2	chr21:37669785-37670830	GM12878	blood:	n/a	chr21:37670697-37670713
16	STAT3	chr21:37670021-37670847	GM12878	blood:	n/a	chr21:37670682-37670689
17	WRNIP1	chr21:37670215-37670954	GM12878	blood:	n/a	n/a
18	POLR2A	chr21:37669885-37670942	GM12878	blood:	n/a	n/a
19	RUNX3	chr21:37670058-37670974	GM12878	blood:	n/a	n/a
20	POLR2A	chr21:37669973-37670946	GM12878	blood:	n/a	n/a
21	POLR2A	chr21:37670220-37671231	GM12878	blood:	n/a	n/a
22	POLR2A	chr21:37670113-37671052	GM12892	blood:	n/a	n/a
23	IRF1	chr21:37670168-37670832	K562	blood:	n/a	n/a
24	EP300	chr21:37670051-37670936	GM12878	blood:	n/a	chr21:37670363-37670376 chr21:37670683-37670692
25	POLR2A	chr21:37670249-37670972	GM18505	blood:	n/a	n/a
26	JUND	chr21:37670271-37670840	K562	blood:	n/a	n/a
27	RELA	chr21:37669868-37670888	GM10847	blood:	n/a	n/a
28	UBTF	chr21:37670236-37670854	K562	blood:	n/a	n/a
29	POLR2A	chr21:37670257-37671001	GM12892	blood:	n/a	n/a
30	PAX5	chr21:37670229-37670940	GM12878	blood:	n/a	n/a
31	POLR2A	chr21:37669857-37670938	GM12891	blood:	n/a	n/a
32	NFIC	chr21:37670035-37670926	GM12878	blood:	n/a	n/a
33	POLR2A	chr21:37670161-37670939	GM12891	blood:	n/a	n/a
34	ATF2	chr21:37670238-37670934	GM12878	blood:	n/a	n/a
35	TBL1XR1	chr21:37670130-37670818	GM12878	blood:	n/a	n/a
36	POLR2A	chr21:37670205-37670963	PBDE	blood:	n/a	n/a
37	EBF1	chr21:37670229-37670773	GM12878	blood:	n/a	n/a
38	IRF4	chr21:37670227-37670891	GM12878	blood:	n/a	chr21:37670544-37670558
39	TBL1XR1	chr21:37670206-37670843	K562	blood:	n/a	n/a
40	MAX	chr21:37670237-37670948	MCF-7	breast:	n/a	n/a
41	RCOR1	chr21:37669994-37670865	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr21:37661301..37663930-chr21:37668773..37670901,3	MCF-7	breast:
2	chr21:37507228..37508904-chr21:37668840..37670934,2	MCF-7	breast:
3	chr21:37668536..37674346-chr21:37690240..37694443,10	MCF-7	breast:

Variant related genes	Relation type
SRSF9P1	TF binding region
ENSG00000273199	Chromatin interaction
ENSG00000159256	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs73905809	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459248	chr21:37450583-37673206	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv587464	chr21:37450583-37673206	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	esv33578	chr21:37488312-37819627	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3449475	chr21:37539524-37700336	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	nsv510797	chr21:37592477-37687123	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv913734	chr21:37617630-37718587	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv962675	chr21:37667705-37670714	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:37633200-37674600	Weak transcription	Right Atrium	heart
2	chr21:37662000-37671400	Weak transcription	Fetal Brain Male	brain
3	chr21:37662200-37670400	Weak transcription	NHLF	lung
4	chr21:37662400-37674800	Weak transcription	Colon Smooth Muscle	Colon
5	chr21:37665800-37670400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr21:37666000-37670400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr21:37666000-37670400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr21:37666000-37670600	Weak transcription	Osteobl	bone
9	chr21:37666000-37671200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr21:37666600-37670800	Weak transcription	Brain Germinal Matrix	brain
11	chr21:37667400-37671600	Enhancers	Placenta	Placenta
12	chr21:37668000-37670400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr21:37668000-37671200	Weak transcription	Fetal Brain Female	brain
14	chr21:37668000-37674600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr21:37668000-37674800	Weak transcription	Lung	lung
16	chr21:37668200-37670600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr21:37668200-37677400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr21:37668800-37670400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr21:37668800-37676800	Enhancers	Primary B cells from peripheral blood	blood
20	chr21:37669200-37672000	Enhancers	Fetal Thymus	thymus
21	chr21:37669600-37670400	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr21:37669600-37671000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr21:37669600-37671200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr21:37669800-37671000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
25	chr21:37669800-37671000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr21:37669800-37671200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr21:37669800-37671200	Enhancers	Fetal Muscle Leg	muscle
28	chr21:37669800-37671600	Enhancers	Primary hematopoietic stem cells	blood
29	chr21:37670000-37670400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr21:37670000-37670400	Enhancers	Thymus	Thymus
31	chr21:37670000-37670400	Enhancers	A549	lung
32	chr21:37670000-37670400	Enhancers	HSMMtube	muscle
33	chr21:37670000-37670800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr21:37670000-37670800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
35	chr21:37670000-37670800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr21:37670000-37670800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr21:37670000-37670800	Enhancers	Pancreas	Pancrea
38	chr21:37670000-37671000	Flanking Active TSS	Primary T cells from cord blood	blood
39	chr21:37670000-37671000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr21:37670000-37671000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr21:37670000-37671000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
42	chr21:37670000-37671000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr21:37670000-37671000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
44	chr21:37670000-37671000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
45	chr21:37670000-37671000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr21:37670000-37671000	Active TSS	Rectal Smooth Muscle	rectum
47	chr21:37670000-37671000	Enhancers	Small Intestine	intestine
48	chr21:37670000-37671000	Flanking Active TSS	GM12878-XiMat	blood
49	chr21:37670000-37671000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr21:37670000-37671000	Flanking Active TSS	NHEK	skin

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