Variant report

Variant	rs62285221
Chromosome Location	chr3:194875140-194875141
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:33)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:33 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBL1XR1	chr3:194875062-194875412	K562	blood:	n/a	n/a
2	NFATC1	chr3:194874985-194875529	GM12878	blood:	n/a	n/a
3	CTCF	chr3:194875000-194875150	HepG2	liver:	n/a	n/a
4	MAX	chr3:194874959-194875408	K562	blood:	n/a	n/a
5	POLR2A	chr3:194874776-194877542	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr3:194874910-194876935	HUVEC	blood vessel:	n/a	n/a
7	FOXP2	chr3:194875118-194875398	SK-N-MC	brain:	n/a	n/a
8	STAT5A	chr3:194875017-194876194	GM12878	blood:	n/a	chr3:194875694-194875706 chr3:194875885-194875893
9	POLR2A	chr3:194872900-194876209	GM12891	blood:	n/a	n/a
10	POLR2A	chr3:194874788-194876791	HUVEC	blood vessel:	n/a	n/a
11	FOXP2	chr3:194875056-194875486	SK-N-MC	brain:	n/a	n/a
12	MTA3	chr3:194874643-194876135	GM12878	blood:	n/a	n/a
13	CTCF	chr3:194875060-194875210	HBMEC	blood vessel:	n/a	n/a
14	POLR2A	chr3:194874921-194876274	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr3:194873648-194876241	GM12878	blood:	n/a	n/a
16	MXI1	chr3:194874445-194876722	IMR90	lung:	n/a	n/a
17	MYC	chr3:194874933-194875244	K562	blood:	n/a	n/a
18	POLR2A	chr3:194875112-194876169	GM12878	blood:	n/a	n/a
19	MYC	chr3:194874890-194876116	NB4	blood:	n/a	n/a
20	POLR2A	chr3:194874822-194876323	HUVEC	blood vessel:	n/a	n/a
21	MYC	chr3:194874963-194875385	K562	blood:	n/a	n/a
22	MYC	chr3:194874955-194875206	HUVEC	blood vessel:	n/a	n/a
23	POLR2A	chr3:194874702-194875489	HUVEC	blood vessel:	n/a	n/a
24	MAZ	chr3:194874418-194876399	IMR90	lung:	n/a	chr3:194876379-194876388
25	BCLAF1	chr3:194875132-194876212	GM12878	blood:	n/a	n/a
26	MAX	chr3:194874878-194876239	HUVEC	blood vessel:	n/a	n/a
27	CTCF	chr3:194875060-194875210	NHDF-neo	bronchial:	n/a	n/a
28	RCOR1	chr3:194874804-194875437	K562	blood:	n/a	n/a
29	BHLHE40	chr3:194874935-194876120	K562	blood:	n/a	n/a
30	MAX	chr3:194874863-194876122	NB4	blood:	n/a	n/a
31	MAX	chr3:194874841-194875487	K562	blood:	n/a	n/a
32	CTCF	chr3:194875020-194875170	HUVEC	blood vessel:	n/a	n/a
33	POLR2A	chr3:194874381-194877258	HUVEC	blood vessel:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:194865591..194868396-chr3:194874419..194877392,2	K562	blood:
2	chr3:194873057..194876086-chr3:194895720..194899560,4	K562	blood:
3	chr3:194840474..194843424-chr3:194874062..194876666,2	K562	blood:
4	chr3:194874240..194875817-chr3:194979341..194981767,2	K562	blood:

No data

Variant related genes	Relation type
XXYLT1	TF binding region
ENSG00000244314	Chromatin interaction
ENSG00000173950	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11707112	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11710992	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1874100	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1874104	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2279633	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58948928	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59361541	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59910866	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60922537	0.86[EUR][1000 genomes]
rs62285217	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62285224	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62285225	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62285226	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62285227	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62285228	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62285231	0.99[ASN][1000 genomes]
rs62290329	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs62290330	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62290331	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62290344	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62290347	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62290351	0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62290352	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62290354	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7616009	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs873120	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs952586	0.85[EUR][1000 genomes]

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	nsv1007697	chr3:194554814-195009930	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
2	nsv536873	chr3:194554814-195009930	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
3	nsv997779	chr3:194687093-194885936	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv536874	chr3:194687093-194885936	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1009796	chr3:194737333-195124248	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1012592	chr3:194814446-194931562	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv536875	chr3:194814446-194931562	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1001492	chr3:194814990-194935397	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
9	nsv461126	chr3:194817484-194961888	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
10	nsv592981	chr3:194817484-194961888	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
11	nsv878137	chr3:194822098-194900432	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
12	nsv461127	chr3:194833940-194934634	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
13	nsv592982	chr3:194833940-194934634	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
14	nsv1014826	chr3:194834615-195631793	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
15	nsv536876	chr3:194834615-195631793	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	73 gene(s)	inside rSNPs	diseases
16	nsv533904	chr3:194868329-195438728	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
17	nsv1009120	chr3:194874494-194974672	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv1010168	chr3:194874494-195135790	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
19	nsv536877	chr3:194874494-195135790	Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS 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	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:194861000-194881000	Weak transcription	Hela-S3	cervix
2	chr3:194862400-194897800	Weak transcription	Dnd41	blood
3	chr3:194868200-194877800	Enhancers	Fetal Stomach	stomach
4	chr3:194868400-194877400	Enhancers	Fetal Heart	heart
5	chr3:194868800-194885400	Enhancers	Fetal Muscle Leg	muscle
6	chr3:194869600-194876400	Enhancers	NHDF-Ad	bronchial
7	chr3:194869800-194876600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:194870800-194877600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:194871000-194877200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:194871000-194880800	Enhancers	HUVEC	blood vessel
11	chr3:194871400-194875800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:194871400-194877800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr3:194871400-194887400	Enhancers	Primary hematopoietic stem cells	blood
14	chr3:194871600-194875200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr3:194871600-194875800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr3:194871600-194876000	Enhancers	NHEK	skin
17	chr3:194871600-194877600	Enhancers	Fetal Intestine Large	intestine
18	chr3:194871600-194881200	Weak transcription	Liver	Liver
19	chr3:194871800-194875200	Enhancers	K562	blood
20	chr3:194871800-194875400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:194871800-194875600	Enhancers	NHLF	lung
22	chr3:194871800-194875800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:194871800-194876200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr3:194871800-194876400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr3:194871800-194876600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:194871800-194876800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr3:194871800-194876800	Enhancers	Osteobl	bone
28	chr3:194871800-194877000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr3:194871800-194878200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr3:194871800-194882800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:194872000-194875200	Weak transcription	Thymus	Thymus
32	chr3:194872000-194875400	Weak transcription	Primary T cells from cord blood	blood
33	chr3:194872000-194875600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr3:194872000-194877000	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr3:194872000-194877200	Enhancers	Stomach Mucosa	stomach
36	chr3:194872000-194877400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr3:194872000-194882800	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr3:194872000-194883000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr3:194872000-194883000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr3:194872200-194875200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr3:194872200-194875200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:194872400-194877600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr3:194872600-194875600	Enhancers	HepG2	liver
44	chr3:194872600-194876200	Enhancers	H9 Cell Line	embryonic stem cell
45	chr3:194872800-194875200	Enhancers	Fetal Lung	lung
46	chr3:194872800-194875400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:194872800-194876400	Enhancers	Placenta	Placenta
48	chr3:194872800-194877400	Enhancers	Right Atrium	heart
49	chr3:194872800-194877600	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:194873000-194875800	Enhancers	Brain Hippocampus Middle	brain

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