Variant report

Variant	rs2071135
Chromosome Location	chr21:45556186-45556187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr21:45555902-45556217	K562	blood:	n/a	n/a
2	POLR2A	chr21:45555859-45557544	K562	blood:	n/a	n/a
3	POLR2A	chr21:45555823-45556222	K562	blood:	n/a	n/a
4	POLR2A	chr21:45555911-45565037	HepG2	liver:	n/a	n/a
5	POLR2A	chr21:45555785-45556617	GM12878	blood:	n/a	n/a
6	POLR2A	chr21:45554537-45556395	K562	blood:	n/a	n/a
7	POLR2A	chr21:45555861-45556862	HL-60	blood:	n/a	n/a
8	POLR2A	chr21:45554562-45556356	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45551834..45580791-chr21:45711953..45732193,97	MCF-7	breast:
2	chr21:45552294..45556513-chr21:45714520..45720755,9	K562	blood:
3	chr21:45551760..45557176-chr21:45717626..45723007,13	MCF-7	breast:
4	chr21:45555886..45558409-chr21:45626511..45629056,2	MCF-7	breast:
5	chr21:45525708..45535025-chr21:45544493..45558414,30	MCF-7	breast:
6	chr21:45554911..45556984-chr21:45748487..45750206,2	K562	blood:
7	chr21:45549496..45557767-chr21:45717764..45723476,12	K562	blood:

No data

Variant related genes	Relation type
C21orf33	TF binding region
ENSG00000232698	Chromatin interaction
ENSG00000141959	Chromatin interaction
ENSG00000241728	Chromatin interaction
ENSG00000241945	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:102)

rs_ID	r²[population]
rs1051981	0.93[CEU][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1059813	0.88[EUR][1000 genomes]
rs11089111	0.86[EUR][1000 genomes]
rs11089115	0.87[CEU][hapmap]
rs11700919	0.86[EUR][1000 genomes]
rs12627239	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs13046297	0.88[CEU][hapmap]
rs13047030	0.86[EUR][1000 genomes]
rs1858665	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2006694	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2020945	0.80[CEU][hapmap];0.86[EUR][1000 genomes]
rs2020946	0.81[CEU][hapmap];0.86[EUR][1000 genomes]
rs2039272	0.82[EUR][1000 genomes]
rs2051260	0.85[EUR][1000 genomes]
rs2071142	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs2071143	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs2071146	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs2071147	0.88[EUR][1000 genomes]
rs2071154	0.82[ASN][1000 genomes]
rs2073432	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs2073433	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs2073435	0.87[EUR][1000 genomes]
rs2187313	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2238713	0.86[EUR][1000 genomes]
rs2242950	0.87[CEU][hapmap];0.83[EUR][1000 genomes]
rs2242951	0.98[ASN][1000 genomes]
rs2242953	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs2242954	0.88[CEU][hapmap];0.83[EUR][1000 genomes]
rs2243999	0.87[CEU][hapmap];0.86[EUR][1000 genomes]
rs2251267	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs2255828	0.80[CEU][hapmap]
rs2255955	0.93[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2276530	0.81[CEU][hapmap]
rs2277805	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2277806	0.80[CEU][hapmap];0.80[EUR][1000 genomes]
rs2299815	0.81[CEU][hapmap]
rs2329707	0.85[EUR][1000 genomes]
rs2516519	0.86[EUR][1000 genomes]
rs2516521	0.85[EUR][1000 genomes]
rs2776368	0.86[EUR][1000 genomes]
rs2838469	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs2838473	0.81[CEU][hapmap]
rs2838482	0.81[CEU][hapmap]
rs2838486	0.80[CEU][hapmap]
rs2838488	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs2838489	0.88[EUR][1000 genomes]
rs2838490	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs2838491	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs2838492	0.88[CEU][hapmap];0.88[EUR][1000 genomes]
rs2838493	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2838494	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2838496	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs2838498	0.86[EUR][1000 genomes]
rs2838499	0.86[EUR][1000 genomes]
rs2838502	0.81[CEU][hapmap]
rs2838503	0.87[CEU][hapmap]
rs2838507	0.81[CEU][hapmap]
rs2838508	0.80[CEU][hapmap]
rs2838509	0.80[CEU][hapmap]
rs2850150	0.81[EUR][1000 genomes]
rs2850154	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2850155	0.86[EUR][1000 genomes]
rs2850156	0.87[EUR][1000 genomes]
rs2850157	0.87[EUR][1000 genomes]
rs2855651	0.85[EUR][1000 genomes]
rs2855652	0.87[EUR][1000 genomes]
rs2855653	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35524612	0.91[ASN][1000 genomes]
rs35538274	0.86[EUR][1000 genomes]
rs3788104	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3788108	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4818881	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs4819370	0.81[EUR][1000 genomes]
rs4819372	0.80[EUR][1000 genomes]
rs4819373	0.86[EUR][1000 genomes]
rs4819375	0.87[ASN][1000 genomes]
rs4819376	0.87[CEU][hapmap];0.87[EUR][1000 genomes]
rs4819377	0.88[EUR][1000 genomes]
rs4819378	0.88[CEU][hapmap];0.86[EUR][1000 genomes]
rs4819379	0.85[EUR][1000 genomes]
rs4819380	1.00[ASN][1000 genomes]
rs4819381	0.86[EUR][1000 genomes]
rs4819383	0.88[CEU][hapmap]
rs62226688	0.90[ASN][1000 genomes]
rs7277269	0.80[CEU][hapmap];0.81[EUR][1000 genomes]
rs7280581	0.88[EUR][1000 genomes]
rs7281270	0.82[EUR][1000 genomes]
rs7282324	1.00[CEU][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs756553	0.85[EUR][1000 genomes]
rs756554	0.87[CEU][hapmap];0.84[EUR][1000 genomes]
rs756555	0.88[CEU][hapmap];0.85[EUR][1000 genomes]
rs7676	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8126564	0.86[EUR][1000 genomes]
rs8130647	0.85[EUR][1000 genomes]
rs8132918	0.80[EUR][1000 genomes]
rs8133610	0.81[EUR][1000 genomes]
rs885872	1.00[CEU][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9306172	0.80[CEU][hapmap]
rs9680179	0.83[EUR][1000 genomes]
rs968713	1.00[CEU][hapmap];0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs968714	0.87[CEU][hapmap];0.88[EUR][1000 genomes]
rs9985064	0.80[CEU][hapmap]

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	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
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS 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	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer 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 miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats 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
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' 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
15	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
18	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
19	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2071135	PWP2	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45554000-45563400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45554200-45556200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr21:45554200-45556400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr21:45554200-45556400	Weak transcription	Aorta	Aorta
5	chr21:45554400-45559200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr21:45554400-45561200	Genic enhancers	Fetal Muscle Trunk	muscle
7	chr21:45554600-45557800	Genic enhancers	Primary T cells fromperipheralblood	blood
8	chr21:45554800-45556400	Weak transcription	Fetal Kidney	kidney
9	chr21:45554800-45557400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr21:45554800-45557600	Genic enhancers	Primary B cells from peripheral blood	blood
11	chr21:45554800-45558600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr21:45554800-45558600	Genic enhancers	Fetal Intestine Small	intestine
13	chr21:45555000-45556200	Weak transcription	NH-A	brain
14	chr21:45555000-45556400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr21:45555000-45557600	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr21:45555000-45558600	Genic enhancers	Brain Inferior Temporal Lobe	brain
17	chr21:45555000-45558800	Genic enhancers	Brain Cingulate Gyrus	brain
18	chr21:45555000-45559400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
19	chr21:45555000-45561200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr21:45555200-45556200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr21:45555200-45556200	Genic enhancers	Primary T cells from cord blood	blood
22	chr21:45555200-45556200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr21:45555200-45557000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr21:45555200-45557400	Weak transcription	NHDF-Ad	bronchial
25	chr21:45555200-45557600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr21:45555200-45558000	Genic enhancers	K562	blood
27	chr21:45555200-45559200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr21:45555200-45559800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr21:45555200-45560400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr21:45555200-45560800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr21:45555200-45561200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr21:45555200-45561200	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr21:45555200-45561200	Genic enhancers	Spleen	Spleen
34	chr21:45555400-45556200	Weak transcription	HUVEC	blood vessel
35	chr21:45555400-45556400	Strong transcription	Fetal Muscle Leg	muscle
36	chr21:45555400-45556600	Strong transcription	Brain Hippocampus Middle	brain
37	chr21:45555400-45556800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr21:45555400-45557000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr21:45555400-45557000	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr21:45555400-45557000	Strong transcription	Thymus	Thymus
41	chr21:45555400-45557200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr21:45555400-45557200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr21:45555400-45557200	Weak transcription	Right Atrium	heart
44	chr21:45555400-45557200	Genic enhancers	Stomach Smooth Muscle	stomach
45	chr21:45555400-45557400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr21:45555400-45557600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr21:45555400-45557600	Weak transcription	Fetal Brain Male	brain
48	chr21:45555400-45557600	Strong transcription	Fetal Stomach	stomach
49	chr21:45555400-45558200	Genic enhancers	Fetal Intestine Large	intestine
50	chr21:45555400-45559000	Genic enhancers	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links