Variant report

Variant	rs231334
Chromosome Location	chr4:2796665-2796666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	STAT3	chr4:2796434-2796734	MCF10A-Er-Src	breast:	n/a	n/a
2	MAX	chr4:2796362-2796945	NB4	blood:	n/a	chr4:2796846-2796857
3	MYC	chr4:2796367-2796732	K562	blood:	n/a	n/a
4	RAD21	chr4:2796442-2796758	IMR90	lung:	n/a	chr4:2796622-2796631
5	MAFK	chr4:2796340-2796756	HepG2	liver:	n/a	chr4:2796536-2796550 chr4:2796535-2796551 chr4:2796537-2796547 chr4:2796537-2796546 chr4:2796532-2796547 chr4:2796533-2796553
6	MYC	chr4:2796389-2796792	NB4	blood:	n/a	n/a
7	POLR2A	chr4:2796660-2796747	K562	blood:	n/a	n/a
8	STAT3	chr4:2796439-2796995	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr4:2796317-2796741	HUVEC	blood vessel:	n/a	n/a
10	MAX	chr4:2796608-2796808	HepG2	liver:	n/a	n/a
11	MAZ	chr4:2795172-2797101	IMR90	lung:	n/a	chr4:2796846-2796857
12	MAX	chr4:2795344-2796804	A549	lung:	n/a	chr4:2795869-2795879
13	SPI1	chr4:2796508-2796712	K562	blood:	n/a	chr4:2796524-2796531
14	TFAP2A	chr4:2795374-2796862	Hela-S3	cervix:	n/a	chr4:2796410-2796422 chr4:2796538-2796547 chr4:2795930-2795945
15	MYC	chr4:2796421-2796721	K562	blood:	n/a	n/a
16	MYC	chr4:2796314-2796735	HUVEC	blood vessel:	n/a	n/a
17	RCOR1	chr4:2796650-2797059	Hela-S3	cervix:	n/a	n/a
18	JUND	chr4:2796363-2796697	K562	blood:	n/a	chr4:2796538-2796548
19	EP300	chr4:2795359-2797144	SK-N-SH	brain:	n/a	n/a
20	RCOR1	chr4:2796400-2796704	K562	blood:	n/a	n/a
21	POLR2A	chr4:2796665-2796813	HepG2	liver:	n/a	n/a
22	SIN3AK20	chr4:2796116-2796713	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr4:2795202-2796999	U87	brain:	n/a	n/a
24	POLR2A	chr4:2796100-2796782	HUVEC	blood vessel:	n/a	n/a
25	MAX	chr4:2795346-2797194	HepG2	liver:	n/a	chr4:2795869-2795879 chr4:2796846-2796857
26	POLR2A	chr4:2795249-2796837	U87	brain:	n/a	n/a
27	POLR2A	chr4:2796287-2796677	Hela-S3	cervix:	n/a	n/a
28	EP300	chr4:2796401-2796730	K562	blood:	n/a	n/a
29	MAX	chr4:2796329-2796937	K562	blood:	n/a	chr4:2796846-2796857
30	FOS	chr4:2796381-2796851	MCF10A-Er-Src	breast:	n/a	chr4:2796538-2796548
31	MAFK	chr4:2796073-2796919	IMR90	lung:	n/a	chr4:2796536-2796550 chr4:2796535-2796551 chr4:2796537-2796547 chr4:2796537-2796546 chr4:2796532-2796547 chr4:2796533-2796553
32	POLR2A	chr4:2796270-2796680	IMR90	lung:	n/a	n/a
33	MAX	chr4:2796353-2796909	K562	blood:	n/a	chr4:2796846-2796857
34	POLR2A	chr4:2795180-2796858	HL-60	blood:	n/a	n/a
35	BHLHE40	chr4:2796397-2796691	K562	blood:	n/a	n/a
36	UBTF	chr4:2796457-2796744	K562	blood:	n/a	n/a
37	POLR2A	chr4:2795208-2796999	U87	brain:	n/a	n/a
38	FOXP2	chr4:2796393-2796692	PFSK-1	brain:	n/a	n/a
39	MAX	chr4:2795191-2797016	A549	lung:	n/a	chr4:2795869-2795879 chr4:2796846-2796857
40	EP300	chr4:2796163-2796715	SK-N-SH_RA	brain:	n/a	n/a
41	GTF2F1	chr4:2796655-2796766	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr4:2796008-2796771	Gliobla	brain:	n/a	n/a
43	MAFK	chr4:2795461-2796769	Hela-S3	cervix:	n/a	chr4:2796536-2796550 chr4:2796535-2796551 chr4:2796537-2796547 chr4:2796537-2796546 chr4:2796532-2796547 chr4:2796533-2796553
44	MAX	chr4:2796282-2796879	SK-N-SH	brain:	n/a	chr4:2796846-2796857
45	RAD21	chr4:2796382-2796725	SK-N-SH_RA	brain:	n/a	chr4:2796622-2796631
46	MAFF	chr4:2796356-2796743	HepG2	liver:	n/a	chr4:2796530-2796548 chr4:2796536-2796550
47	MXI1	chr4:2795440-2796703	Hela-S3	cervix:	n/a	n/a
48	MAX	chr4:2795277-2796682	Hela-S3	cervix:	n/a	chr4:2795869-2795879
49	MXI1	chr4:2794372-2797373	IMR90	lung:	n/a	n/a
50	POLR2A	chr4:2796267-2796769	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:2794178..2796870-chr4:2828744..2832985,4	MCF-7	breast:
2	chr4:2794084..2803742-chr4:2816227..2824357,23	MCF-7	breast:
3	chr4:2795447..2803617-chr4:2934606..2939244,18	MCF-7	breast:
4	chr4:2764307..2766029-chr4:2796007..2799885,3	MCF-7	breast:
5	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
6	chr4:2795244..2797486-chr4:2845439..2847269,2	MCF-7	breast:
7	chr4:2795938..2798748-chr4:2909831..2911364,2	MCF-7	breast:
8	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:
9	chr4:2795940..2798085-chr4:2962031..2964351,2	MCF-7	breast:
10	chr4:2755902..2759354-chr4:2793552..2797883,6	K562	blood:
11	chr4:2753714..2768807-chr4:2789818..2806638,47	MCF-7	breast:
12	chr4:2794820..2799191-chr4:2824314..2827597,4	MCF-7	breast:
13	chr4:2793845..2803067-chr4:2816443..2823671,22	MCF-7	breast:

Variant related genes	Relation type
SH3BP2	TF binding region
ENSG00000087266	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000168884	Chromatin interaction
ENSG00000087274	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000249673	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1263449	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1271256	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs172998	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs1751848	0.83[ASN][1000 genomes]
rs182820	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs190160	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs231339	0.83[ASN][1000 genomes]
rs381101	0.82[ASN][1000 genomes]
rs382379	0.83[ASN][1000 genomes]
rs390288	0.96[ASN][1000 genomes]
rs392479	0.82[ASN][1000 genomes]
rs397292	0.83[ASN][1000 genomes]
rs402855	0.82[ASN][1000 genomes]
rs407770	0.83[ASN][1000 genomes]
rs408102	0.97[ASN][1000 genomes]
rs419096	0.83[ASN][1000 genomes]
rs438524	0.82[ASN][1000 genomes]
rs743691	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs762833	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs762834	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7677047	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948659	chr4:1828867-2815632	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1005116	chr4:2633935-2812340	Bivalent/Poised TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv878444	chr4:2689449-2861090	Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv470002	chr4:2701098-2836628	Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv878445	chr4:2704046-2831383	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv878446	chr4:2710644-2810634	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv878447	chr4:2723531-2831383	Flanking Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv516797	chr4:2723531-2836628	Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv878448	chr4:2723531-2846799	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv878449	chr4:2744480-2831383	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv1002517	chr4:2747905-2822017	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv878450	chr4:2760222-2861090	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv967941	chr4:2765555-2802771	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
16	nsv593435	chr4:2770772-2881256	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
17	nsv878451	chr4:2785556-2856687	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
18	nsv878452	chr4:2789184-2830076	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv1010533	chr4:2792848-2873441	Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv461162	chr4:2794320-2846799	Strong transcription Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised 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	14 gene(s)	inside rSNPs	diseases
21	nsv593436	chr4:2794320-2846799	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Weak 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2794800-2796800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr4:2794800-2797200	Flanking Active TSS	Primary B cells from cord blood	blood
3	chr4:2794800-2797200	Flanking Active TSS	Placenta	Placenta
4	chr4:2795200-2796800	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr4:2795200-2797000	Flanking Active TSS	Stomach Smooth Muscle	stomach
6	chr4:2795200-2797200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr4:2795200-2797800	Enhancers	Fetal Heart	heart
8	chr4:2795400-2796800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr4:2795400-2796800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:2795400-2796800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr4:2795400-2796800	Flanking Active TSS	Duodenum Mucosa	Duodenum
12	chr4:2795400-2796800	Flanking Active TSS	Right Ventricle	heart
13	chr4:2795400-2796800	Flanking Active TSS	HSMM	muscle
14	chr4:2795400-2796800	Flanking Active TSS	HUVEC	blood vessel
15	chr4:2795400-2796800	Flanking Active TSS	NHEK	skin
16	chr4:2795400-2797000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr4:2795400-2797000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr4:2795400-2797000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr4:2795400-2797000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr4:2795400-2797000	Flanking Active TSS	A549	lung
21	chr4:2795400-2797000	Flanking Active TSS	Osteobl	bone
22	chr4:2795400-2797200	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr4:2795400-2797800	Flanking Active TSS	Liver	Liver
24	chr4:2795400-2801400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr4:2795600-2796800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:2795600-2796800	Flanking Active TSS	NHDF-Ad	bronchial
27	chr4:2795600-2797000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:2795600-2797000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:2795600-2797000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr4:2795600-2797000	Flanking Active TSS	Colonic Mucosa	Colon
31	chr4:2795600-2797000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr4:2795600-2797000	Flanking Active TSS	NH-A	brain
33	chr4:2795600-2797200	Enhancers	HSMMtube	muscle
34	chr4:2795600-2797400	Flanking Active TSS	HepG2	liver
35	chr4:2795600-2797400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr4:2795600-2797600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr4:2795600-2797600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr4:2795600-2799000	Flanking Active TSS	Hela-S3	cervix
39	chr4:2795800-2796800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr4:2795800-2796800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:2795800-2796800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:2795800-2796800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr4:2795800-2796800	Enhancers	Fetal Stomach	stomach
44	chr4:2795800-2797000	Bivalent Enhancer	Fetal Thymus	thymus
45	chr4:2795800-2797000	Enhancers	Ovary	ovary
46	chr4:2795800-2797200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr4:2795800-2797200	Enhancers	Psoas Muscle	Psoas
48	chr4:2795800-2797600	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr4:2795800-2797800	Enhancers	Fetal Kidney	kidney
50	chr4:2795800-2798800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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