Variant report

Variant	rs35333166
Chromosome Location	chr3:50128005-50128006
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:61)
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	POLR2A	chr3:50126008-50128248	GM12891	blood:	n/a	n/a
2	MYC	chr3:50128002-50128170	MCF10A-Er-Src	breast:	n/a	n/a
3	MXI1	chr3:50125926-50129106	IMR90	lung:	n/a	n/a
4	NRF1	chr3:50127777-50128114	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:50127867-50129131	GM12878	blood:	n/a	n/a
6	POLR2A	chr3:50127890-50128076	MCF10A-Er-Src	breast:	n/a	n/a
7	MAFK	chr3:50127142-50128915	GM12878	blood:	n/a	chr3:50128613-50128627 chr3:50128610-50128630 chr3:50128615-50128630 chr3:50128612-50128628 chr3:50128614-50128624
8	CHD1	chr3:50125809-50128121	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:50127982-50128032	HIPEpiC	eye:	n/a
2	chr3:50127982-50128032	NHBE	bronchial:	n/a
3	chr3:50127982-50128032	HAEpiC	amniotic membrane:	n/a
4	chr3:50127982-50128032	HCM	heart:	n/a
5	chr3:50127982-50128032	MCF10A-Er-Src	breast:	n/a
6	chr3:50127982-50128032	NH-A	brain:	n/a
7	chr3:50127982-50128032	AG09319	gingival:	n/a
8	chr3:50127982-50128032	SAEC	small airway:	n/a
9	chr3:50127982-50128032	PANC-1	pancreas:	n/a
10	chr3:50127982-50128032	HMEC	breast:	n/a
11	chr3:50127982-50128032	RPTEC	kidney:	n/a
12	chr3:50127982-50128032	H1-hESC	embryonic stem cell:	embryo
13	chr3:50127982-50128032	HEK293	kidney:	embryo
14	chr3:50127982-50128032	Caco-2	colon:	n/a
15	chr3:50127982-50128032	SKMC	muscle:	n/a
16	chr3:50127982-50128032	HEEpiC	esophagus:	n/a
17	chr3:50127982-50128032	HRPEpiC	eye:	n/a
18	chr3:50127982-50128032	BE2_C	brain:	n/a
19	chr3:50127982-50128032	PrEC	prostate:	n/a
20	chr3:50127982-50128032	GM12878	blood:	n/a
21	chr3:50127982-50128032	SK-N-SH_RA	brain:	n/a
22	chr3:50127982-50128032	Jurkat	blood:	n/a
23	chr3:50127982-50128032	SK-N-MC	brain:	n/a
24	chr3:50127982-50128032	Hela-S3	cervix:	n/a
25	chr3:50127982-50128032	HepG2	liver:	n/a
26	chr3:50127982-50128032	PFSK-1	brain:	n/a
27	chr3:50127982-50128032	Hepatocyte	liver:	n/a
28	chr3:50127982-50128032	HPAEpiC	pulmonary alveolar:	n/a
29	chr3:50127982-50128032	AG04449	skin:	fetal
30	chr3:50127982-50128032	HCF	heart:	n/a
31	chr3:50127982-50128032	SK-N-SH	brain:	n/a
32	chr3:50127982-50128032	LNCaP	prostate:	n/a
33	chr3:50127982-50128032	NT2-D1	testis:	n/a
34	chr3:50127982-50128032	U87	brain:	n/a
35	chr3:50127982-50128032	MCF-7	breast:	n/a
36	chr3:50127982-50128032	GM06990	blood:	n/a
37	chr3:50127982-50128032	HUVEC	blood vessel:	n/a
38	chr3:50127982-50128032	HCT-116	colon:	n/a
39	chr3:50127982-50128032	GM12892	blood:	n/a
40	chr3:50127982-50128032	HRE	kidney:	n/a
41	chr3:50127982-50128032	CMK	blood:	n/a
42	chr3:50127982-50128032	HCPEpiC	choroid plexus:	n/a
43	chr3:50127982-50128032	HNPCEpiC	eye:	n/a
44	chr3:50127982-50128032	NHDF-neo	bronchial:	n/a
45	chr3:50127982-50128032	GM12891	blood:	n/a
46	chr3:50127982-50128032	BJ	skin:	n/a
47	chr3:50127982-50128032	K562	blood:	n/a
48	chr3:50127982-50128032	GM19239	blood:	n/a
49	chr3:50127982-50128032	IMR90	lung:	fetal
50	chr3:50127982-50128032	AG04450	lung:	fetal

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

No.	Distal block	Cell Line	Cell type
1	chr3:50125762..50129022-chr3:50137938..50141076,4	K562	blood:
2	chr3:50125097..50128236-chr3:50128554..50131975,3	MCF-7	breast:
3	chr3:49966762..49969614-chr3:50125142..50129125,3	K562	blood:
4	chr3:50126575..50128257-chr3:50136862..50139788,2	MCF-7	breast:
5	chr3:50103040..50106585-chr3:50126937..50129142,3	K562	blood:
6	chr3:50127396..50129156-chr3:50141876..50143415,2	K562	blood:
7	chr3:49976300..49979550-chr3:50125389..50128777,3	K562	blood:

No data

Variant related genes	Relation type
RBM5	TF binding region
RBM5	CpG island
ENSG00000004534	Chromatin interaction
ENSG00000164077	Chromatin interaction
ENSG00000003756	Chromatin interaction

Extended variants
information (count: 86 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:80)

rs_ID	r²[population]
rs11130223	0.87[AMR][1000 genomes]
rs11130225	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11130230	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11130237	0.83[AMR][1000 genomes]
rs11130239	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11916261	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11916999	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11920034	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11923132	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11924670	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11924711	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11925156	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs11928995	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486470	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12486808	0.81[EUR][1000 genomes]
rs12486832	0.81[EUR][1000 genomes]
rs12489386	0.87[AMR][1000 genomes]
rs12490944	0.81[EUR][1000 genomes]
rs12492291	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12493565	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12494077	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494172	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12494916	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12495114	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12495831	0.87[AMR][1000 genomes]
rs12629129	0.81[EUR][1000 genomes]
rs12629677	0.81[EUR][1000 genomes]
rs12630917	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12630959	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12631248	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12631608	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12632751	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636045	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636232	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12636449	0.82[EUR][1000 genomes]
rs12637457	0.81[EUR][1000 genomes]
rs12637681	0.87[AMR][1000 genomes]
rs12638046	0.81[EUR][1000 genomes]
rs13100903	0.94[ASN][1000 genomes]
rs1317215	0.87[AMR][1000 genomes]
rs13326300	0.87[AMR][1000 genomes]
rs2003485	0.87[ASN][1000 genomes]
rs2023951	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2023952	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28478136	0.87[AMR][1000 genomes]
rs41291716	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs55643042	0.87[AMR][1000 genomes]
rs57009357	0.81[EUR][1000 genomes]
rs57575459	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58025924	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs58621288	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs58766761	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs59802870	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61729114	0.81[EUR][1000 genomes]
rs62260756	0.87[AMR][1000 genomes]
rs62260770	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62260771	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62262060	0.87[AMR][1000 genomes]
rs62262095	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62262096	0.81[EUR][1000 genomes]
rs62262099	0.81[EUR][1000 genomes]
rs62262100	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62262105	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62262117	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62262136	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs62262145	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs62262148	0.81[EUR][1000 genomes]
rs62263578	0.81[EUR][1000 genomes]
rs62263580	0.88[EUR][1000 genomes]
rs62263584	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263586	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263588	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263590	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263591	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263596	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62263597	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62263600	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6797500	0.87[AMR][1000 genomes]
rs9813644	0.87[AMR][1000 genomes]
rs9859813	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv460527	chr3:50028385-50153356	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv590249	chr3:50028385-50153356	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv834690	chr3:50101835-50267584	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv515986	chr3:50104307-50267584	Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv432418	chr3:50114496-50224196	Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50125800-50128200	Active TSS	Psoas Muscle	Psoas
2	chr3:50126200-50128400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:50126400-50128200	Active TSS	Aorta	Aorta
4	chr3:50126400-50128400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr3:50126600-50128600	Transcr. at gene 5' and 3'	Dnd41	blood
6	chr3:50127400-50128200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr3:50127400-50128200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr3:50127400-50128200	Weak transcription	Gastric	stomach
9	chr3:50127400-50128400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
10	chr3:50127400-50128400	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr3:50127400-50128400	Enhancers	Small Intestine	intestine
12	chr3:50127400-50129400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:50127400-50129400	Weak transcription	Pancreas	Pancrea
14	chr3:50127400-50129400	Weak transcription	Spleen	Spleen
15	chr3:50127400-50132800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:50127400-50150000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:50127600-50128200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr3:50127600-50128200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr3:50127600-50128200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:50127600-50128200	Flanking Active TSS	Fetal Brain Male	brain
21	chr3:50127600-50128200	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr3:50127600-50128400	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:50127600-50128400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:50127600-50128400	Flanking Active TSS	Colonic Mucosa	Colon
25	chr3:50127600-50128400	Transcr. at gene 5' and 3'	Hela-S3	cervix
26	chr3:50127600-50129000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:50127600-50129000	Enhancers	Stomach Mucosa	stomach
28	chr3:50127600-50129600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:50127800-50128200	Transcr. at gene 5' and 3'	H1 Cell Line	embryonic stem cell
30	chr3:50127800-50128200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr3:50127800-50128200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:50127800-50128200	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr3:50127800-50128200	Flanking Active TSS	Fetal Heart	heart
34	chr3:50127800-50128200	Flanking Active TSS	Fetal Stomach	stomach
35	chr3:50127800-50128200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
36	chr3:50127800-50128200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr3:50127800-50128400	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
38	chr3:50127800-50128400	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
39	chr3:50127800-50128400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
40	chr3:50127800-50128400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:50127800-50128400	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
42	chr3:50127800-50128400	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
43	chr3:50127800-50128400	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
44	chr3:50127800-50128400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
45	chr3:50127800-50128400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
46	chr3:50127800-50128400	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
47	chr3:50127800-50128600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
48	chr3:50127800-50128600	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
49	chr3:50127800-50128600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
50	chr3:50127800-50128600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood

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