Variant report

Variant	rs2735310
Chromosome Location	chr21:40717500-40717501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:23)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:23 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr21:40716967-40721099	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr21:40717375-40718296	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr21:40717311-40718928	GM12891	blood:	n/a	n/a
4	POLR2A	chr21:40717293-40717681	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr21:40717202-40717918	HL-60	blood:	n/a	n/a
6	POLR2A	chr21:40716164-40723345	K562	blood:	n/a	n/a
7	POLR2A	chr21:40717140-40717512	HepG2	liver:	n/a	n/a
8	POLR2A	chr21:40717475-40717886	GM12891	blood:	n/a	n/a
9	POLR2A	chr21:40716823-40717879	GM12878	blood:	n/a	n/a
10	POLR2A	chr21:40717457-40717840	GM12892	blood:	n/a	n/a
11	POLR2A	chr21:40716871-40717588	GM12892	blood:	n/a	n/a
12	HEY1	chr21:40716930-40717871	K562	blood:	n/a	n/a
13	POLR2A	chr21:40716980-40717869	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr21:40717406-40717562	ProgFib	skin:	n/a	n/a
15	POLR2A	chr21:40717080-40717821	HepG2	liver:	n/a	n/a
16	POLR2A	chr21:40716749-40718389	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr21:40716913-40717827	GM12892	blood:	n/a	n/a
18	POLR2A	chr21:40717038-40717884	MCF-7	breast:	n/a	n/a
19	POLR2A	chr21:40716415-40718095	GM12878	blood:	n/a	n/a
20	POLR2A	chr21:40717284-40717793	HepG2	liver:	n/a	n/a
21	CUX1	chr21:40717377-40717552	K562	blood:	n/a	n/a
22	POLR2A	chr21:40717270-40717527	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr21:40717227-40717522	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr21:40681596..40696529-chr21:40715399..40724266,46	K562	blood:
2	chr21:40716662..40723444-chr21:40748337..40754328,16	MCF-7	breast:
3	chr21:40635414..40638745-chr21:40717382..40720310,3	K562	blood:
4	chr21:40716442..40724032-chr21:40756185..40762223,18	K562	blood:
5	chr21:40652004..40654564-chr21:40716456..40719134,2	MCF-7	breast:
6	chr21:40716961..40722807-chr21:40750720..40754894,10	K562	blood:
7	chr21:40716961..40718462-chr21:40751682..40753726,2	K562	blood:
8	chr21:40716079..40725440-chr21:40756737..40764615,26	K562	blood:

No data

Variant related genes	Relation type
ENSG00000238556	TF binding region
ENSG00000227406	Chromatin interaction
ENSG00000182093	Chromatin interaction
ENSG00000255568	Chromatin interaction
ENSG00000238141	Chromatin interaction
ENSG00000185658	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1041439	0.90[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap]
rs11088471	0.80[CHB][hapmap]
rs11702268	0.81[CEU][hapmap];0.82[CHB][hapmap];0.86[JPT][hapmap]
rs11910971	0.90[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs13051430	0.90[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs1541100	0.89[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs1541101	0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap];1.00[AFR][1000 genomes]
rs1984748	0.90[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap]
rs2026266	0.88[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap]
rs2070867	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2142117	0.90[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs2150410	0.90[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs2150412	0.83[CHB][hapmap];0.89[JPT][hapmap]
rs2183574	0.88[CEU][hapmap]
rs2183575	0.90[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs2183576	0.89[CEU][hapmap];0.87[CHB][hapmap];0.86[JPT][hapmap]
rs2236437	0.90[CEU][hapmap];0.83[CHB][hapmap];0.87[JPT][hapmap]
rs2272576	0.90[CEU][hapmap];0.87[JPT][hapmap]
rs2272577	0.90[CEU][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs2410104	0.90[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs2776310	1.00[AFR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2836969	0.83[CHB][hapmap]
rs2836971	0.87[CHB][hapmap]
rs2836982	0.83[CHB][hapmap]
rs383967	0.89[GIH][hapmap];1.00[MEX][hapmap]
rs391062	0.90[CEU][hapmap];0.83[JPT][hapmap]
rs413078	0.90[CEU][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap]
rs4816619	0.90[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap]
rs4816623	1.00[AFR][1000 genomes]
rs4818007	0.89[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap]
rs4818011	0.89[CEU][hapmap];0.88[CHB][hapmap];0.82[JPT][hapmap]
rs4818015	0.83[CHB][hapmap]
rs4818028	1.00[LWK][hapmap]
rs6517520	0.90[CEU][hapmap];0.96[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap]
rs6517528	0.90[CEU][hapmap];0.83[CHB][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap]
rs6517529	0.89[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap]
rs6517531	0.90[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs6517532	0.80[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs6517540	0.90[CEU][hapmap]
rs6517541	0.90[CEU][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs718225	0.90[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap]
rs726046	1.00[CEU][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.90[TSI][hapmap];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7275773	0.90[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap]
rs7276774	0.80[CHB][hapmap]
rs7280149	0.90[CEU][hapmap]
rs7281853	0.83[CHB][hapmap]
rs7283439	0.90[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap]
rs760166	0.90[CEU][hapmap]
rs8127391	0.90[CEU][hapmap];0.88[CHB][hapmap];0.91[JPT][hapmap]
rs8128118	0.80[CEU][hapmap];0.85[CHB][hapmap];0.87[JPT][hapmap]
rs8131150	0.90[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs8131263	0.90[CEU][hapmap];0.88[CHB][hapmap];0.86[JPT][hapmap]
rs8132230	0.90[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs973521	0.90[CEU][hapmap];0.88[CHB][hapmap];0.96[GIH][hapmap];0.87[JPT][hapmap];1.00[MEX][hapmap]
rs9978591	0.80[CEU][hapmap];0.88[CHB][hapmap];0.87[JPT][hapmap]
rs9982122	0.90[CEU][hapmap];0.96[GIH][hapmap];0.83[JPT][hapmap];1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913744	chr21:40670167-40757973	Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
2	nsv1059420	chr21:40684295-40745952	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv587483	chr21:40686327-40718161	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1059868	chr21:40711535-41043291	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2735310	C21orf107	cis	multi-tissue	Pritchard
rs2735310	BRWD1	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:40692400-40718400	Weak transcription	Right Atrium	heart
2	chr21:40704000-40719600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr21:40704600-40719600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr21:40711800-40719600	Weak transcription	Pancreas	Pancrea
5	chr21:40712200-40718800	Strong transcription	Fetal Muscle Trunk	muscle
6	chr21:40712600-40717600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr21:40712600-40717600	Strong transcription	Fetal Muscle Leg	muscle
8	chr21:40712600-40717600	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr21:40712600-40717600	Strong transcription	Thymus	Thymus
10	chr21:40712600-40718200	Strong transcription	HSMM	muscle
11	chr21:40712800-40717600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr21:40712800-40717600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr21:40712800-40717600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr21:40712800-40717600	Strong transcription	A549	lung
15	chr21:40712800-40717800	Strong transcription	Primary B cells from cord blood	blood
16	chr21:40712800-40717800	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr21:40712800-40718400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr21:40712800-40718600	Strong transcription	Primary B cells from peripheral blood	blood
19	chr21:40712800-40719200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr21:40712800-40719200	Strong transcription	Placenta	Placenta
21	chr21:40713000-40718800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr21:40713200-40717600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr21:40713600-40717600	Strong transcription	H9 Cell Line	embryonic stem cell
24	chr21:40713600-40718000	Strong transcription	Brain Hippocampus Middle	brain
25	chr21:40713600-40718600	Strong transcription	NHDF-Ad	bronchial
26	chr21:40714200-40718000	Weak transcription	Fetal Intestine Small	intestine
27	chr21:40715000-40719000	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr21:40715200-40717600	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr21:40715600-40719200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr21:40715800-40717600	Weak transcription	Fetal Heart	heart
31	chr21:40715800-40717600	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr21:40715800-40718000	Weak transcription	HSMMtube	muscle
33	chr21:40715800-40718600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr21:40715800-40718800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr21:40715800-40719400	Weak transcription	Ovary	ovary
36	chr21:40715800-40719600	Weak transcription	Esophagus	oesophagus
37	chr21:40716000-40717600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr21:40716000-40717600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr21:40716000-40717600	Weak transcription	Stomach Smooth Muscle	stomach
40	chr21:40716000-40718200	Weak transcription	Adipose Nuclei	Adipose
41	chr21:40716000-40718400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr21:40716000-40718400	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr21:40716000-40718600	Weak transcription	Brain Angular Gyrus	brain
44	chr21:40716000-40718600	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr21:40716000-40719400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr21:40716000-40719400	Weak transcription	Brain Anterior Caudate	brain
47	chr21:40716000-40719600	Weak transcription	Aorta	Aorta
48	chr21:40716000-40719600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr21:40716000-40719600	Weak transcription	Colonic Mucosa	Colon
50	chr21:40716000-40719600	Weak transcription	Gastric	stomach

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