Variant report

Variant	rs34745961
Chromosome Location	chr4:2934920-2934921
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:54)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:54 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr4:2934609-2936285	SK-N-SH	brain:	n/a	n/a
2	CTCF	chr4:2934851-2934963	GM12892	blood:	n/a	n/a
3	POLR2A	chr4:2934690-2935153	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr4:2934689-2935022	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr4:2929559-2936017	GM12878	blood:	n/a	n/a
6	POLR2A	chr4:2932590-2935163	GM18505	blood:	n/a	n/a
7	RCOR1	chr4:2934847-2935205	GM12878	blood:	n/a	n/a
8	POLR2A	chr4:2933146-2935604	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr4:2934499-2935540	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr4:2930058-2935267	GM12892	blood:	n/a	n/a
11	CTCF	chr4:2934800-2934950	GM12864	blood:	n/a	n/a
12	POLR2A	chr4:2934832-2935027	GM12878	blood:	n/a	n/a
13	POLR2A	chr4:2929805-2936295	HL-60	blood:	n/a	n/a
14	POLR2A	chr4:2934101-2936177	MCF-7	breast:	n/a	n/a
15	POLR2A	chr4:2934760-2935327	GM12878	blood:	n/a	n/a
16	EBF1	chr4:2934652-2935296	GM12878	blood:	n/a	chr4:2934767-2934778 chr4:2934801-2934812
17	POLR2A	chr4:2934667-2935033	HCT-116	colon:	n/a	n/a
18	POLR2A	chr4:2934737-2935062	GM12878	blood:	n/a	n/a
19	POLR2A	chr4:2934576-2935050	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr4:2934850-2935020	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr4:2934705-2935016	GM12892	blood:	n/a	n/a
22	HMGN3	chr4:2934508-2934929	K562	blood:	n/a	n/a
23	CTCF	chr4:2934860-2935010	GM12865	blood:	n/a	n/a
24	CTCF	chr4:2934866-2934924	GM12878	blood:	n/a	n/a
25	POLR2A	chr4:2932735-2936200	U87	brain:	n/a	n/a
26	POLR2A	chr4:2932716-2936132	GM12878	blood:	n/a	n/a
27	MXI1	chr4:2934857-2936419	IMR90	lung:	n/a	n/a
28	POLR2A	chr4:2930118-2940539	K562	blood:	n/a	n/a
29	CTCF	chr4:2934780-2934930	GM06990	blood:	n/a	n/a
30	POLR2A	chr4:2934659-2935616	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr4:2933222-2935217	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr4:2932797-2936194	U87	brain:	n/a	n/a
33	MYC	chr4:2934554-2938040	NB4	blood:	n/a	n/a
34	POLR2A	chr4:2934109-2935469	U87	brain:	n/a	n/a
35	POLR2A	chr4:2934707-2935383	GM12891	blood:	n/a	n/a
36	POLR2A	chr4:2934593-2934979	HepG2	liver:	n/a	n/a
37	POLR2A	chr4:2931577-2935568	PANC-1	pancreas:	n/a	n/a
38	MAX	chr4:2934511-2936129	NB4	blood:	n/a	n/a
39	POLR2A	chr4:2934649-2934920	GM12878	blood:	n/a	n/a
40	FOSL2	chr4:2934797-2935347	HepG2	liver:	n/a	n/a
41	POLR2A	chr4:2932743-2935704	HepG2	liver:	n/a	n/a
42	POLR2A	chr4:2934041-2935445	U87	brain:	n/a	n/a
43	POLR2A	chr4:2930108-2936184	GM12878	blood:	n/a	n/a
44	PBX3	chr4:2934813-2934980	GM12878	blood:	n/a	n/a
45	POLR2A	chr4:2930105-2936184	HL-60	blood:	n/a	n/a
46	POLR2A	chr4:2934641-2935539	SK-N-SH	brain:	n/a	n/a
47	MTA3	chr4:2934663-2935258	GM12878	blood:	n/a	n/a
48	MTA3	chr4:2932656-2935304	GM12878	blood:	n/a	n/a
49	POLR2A	chr4:2934526-2935309	GM12892	blood:	n/a	n/a
50	POLR2A	chr4:2934378-2939792	NB4	blood:	n/a	n/a

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:2903718..2915473-chr4:2930612..2941584,27	MCF-7	breast:
2	chr4:2795447..2803617-chr4:2934606..2939244,18	MCF-7	breast:
3	chr4:2934778..2935401-chr4:3038500..3039044,2	MCF-7	breast:
4	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
5	chr4:2866956..2870306-chr4:2932983..2937533,4	K562	blood:
6	chr4:2876022..2879054-chr4:2934409..2936795,3	MCF-7	breast:
7	chr4:2842030..2853279-chr4:2934021..2940851,24	MCF-7	breast:
8	chr4:2756666..2758401-chr4:2934532..2936638,2	MCF-7	breast:
9	chr4:2753882..2759883-chr4:2932429..2941474,15	MCF-7	breast:
10	chr4:2906552..2911481-chr4:2934891..2942965,11	MCF-7	breast:
11	chr4:2798466..2800490-chr4:2934363..2936581,2	K562	blood:

No data

Variant related genes	Relation type
NOP14-AS1	TF binding region
MFSD10	TF binding region
ENSG00000087274	Chromatin interaction
ENSG00000087266	Chromatin interaction
ENSG00000168884	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs1034400	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10488838	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1263331	1.00[ASN][1000 genomes]
rs1574473	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843169	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843451	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843454	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843481	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843500	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843535	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843539	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843553	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16843596	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2005451	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2857845	1.00[ASN][1000 genomes]
rs34120252	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34241425	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34550139	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34585460	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34743278	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34945392	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35445752	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35508581	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35893718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35913891	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36038921	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41528047	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4741	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4969	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56975682	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57155428	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57174035	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57557041	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57763208	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58059873	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58132256	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58196520	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58731679	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58758786	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58928665	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59426248	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59786983	1.00[ASN][1000 genomes]
rs59790260	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59798370	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60169711	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61117606	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61339714	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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 target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv3440752	chr4:2934679-2937727	Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	esv3446681	chr4:2934779-2937527	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2907400-2935400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr4:2911200-2935000	Weak transcription	Psoas Muscle	Psoas
3	chr4:2913000-2935000	Weak transcription	K562	blood
4	chr4:2925800-2935000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr4:2926200-2935000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr4:2926600-2935200	Weak transcription	Fetal Kidney	kidney
7	chr4:2926600-2936600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr4:2928600-2935000	Weak transcription	Small Intestine	intestine
9	chr4:2928600-2935200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr4:2930600-2935200	Genic enhancers	Lung	lung
11	chr4:2931400-2935200	Weak transcription	Brain Substantia Nigra	brain
12	chr4:2931800-2935000	Genic enhancers	Fetal Muscle Trunk	muscle
13	chr4:2932000-2935000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr4:2932000-2935000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:2932000-2935000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr4:2932000-2935200	Genic enhancers	Fetal Muscle Leg	muscle
17	chr4:2932200-2935400	Genic enhancers	Primary B cells from peripheral blood	blood
18	chr4:2932200-2935600	Enhancers	Stomach Mucosa	stomach
19	chr4:2932200-2935800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr4:2932200-2936000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr4:2932400-2935000	Weak transcription	Ovary	ovary
22	chr4:2932400-2935200	Weak transcription	Colon Smooth Muscle	Colon
23	chr4:2932600-2935000	Weak transcription	HepG2	liver
24	chr4:2932600-2935200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr4:2932600-2935400	Enhancers	Left Ventricle	heart
26	chr4:2932600-2935400	Genic enhancers	Spleen	Spleen
27	chr4:2932800-2935000	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr4:2932800-2935200	Genic enhancers	Brain Inferior Temporal Lobe	brain
29	chr4:2932800-2935600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr4:2933000-2935000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr4:2933200-2935000	Weak transcription	Aorta	Aorta
32	chr4:2933200-2935400	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr4:2933200-2935400	Enhancers	Primary hematopoietic stem cells	blood
34	chr4:2933200-2935600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
35	chr4:2933200-2935800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
36	chr4:2933200-2935800	Flanking Active TSS	GM12878-XiMat	blood
37	chr4:2933400-2935000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr4:2933400-2935600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr4:2933400-2935800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr4:2933400-2936000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr4:2933600-2935200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
42	chr4:2933600-2935200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr4:2933600-2935200	Enhancers	Adipose Nuclei	Adipose
44	chr4:2933600-2935600	Weak transcription	Liver	Liver
45	chr4:2933600-2935600	Enhancers	Placenta	Placenta
46	chr4:2933600-2936000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr4:2933800-2935000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr4:2933800-2935000	Enhancers	Primary B cells from cord blood	blood
49	chr4:2933800-2935200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr4:2933800-2935200	Enhancers	Brain Anterior Caudate	brain

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