Variant report

Variant	rs76738645
Chromosome Location	chr4:2794559-2794560
allele	C/T
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	JUND	chr4:2794524-2794567	K562	blood:	n/a	n/a
2	ZBTB7A	chr4:2794218-2795464	ECC-1	luminal epithelium:	n/a	n/a
3	MAX	chr4:2794098-2795112	HCT-116	colon:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
4	USF1	chr4:2794505-2794751	SK-N-SH_RA	brain:	n/a	n/a
5	MXI1	chr4:2794418-2794922	HepG2	liver:	n/a	n/a
6	USF1	chr4:2794385-2794820	ECC-1	luminal epithelium:	n/a	n/a
7	PAX5	chr4:2794449-2794743	GM12892	blood:	n/a	n/a
8	POLR2A	chr4:2794514-2794641	H1-hESC	embryonic stem cell:	n/a	n/a
9	USF2	chr4:2794465-2794658	H1-hESC	embryonic stem cell:	n/a	n/a
10	CBX3	chr4:2794372-2794721	K562	blood:	n/a	n/a
11	E2F6	chr4:2794153-2794988	K562	blood:	n/a	chr4:2794631-2794643 chr4:2794627-2794642
12	REST	chr4:2794425-2794600	A549	lung:	n/a	chr4:2794432-2794445 chr4:2794439-2794448
13	MYC	chr4:2794434-2794788	HepG2	liver:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
14	SP1	chr4:2794434-2794686	GM12878	blood:	n/a	chr4:2794656-2794665 chr4:2794634-2794643 chr4:2794656-2794665 chr4:2794655-2794667 chr4:2794657-2794666 chr4:2794656-2794666 chr4:2794655-2794667
15	MAX	chr4:2794160-2794928	HCT-116	colon:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
16	USF1	chr4:2794357-2794708	H1-hESC	embryonic stem cell:	n/a	n/a
17	MAX	chr4:2794425-2794780	Hela-S3	cervix:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
18	MYC	chr4:2794458-2794713	NB4	blood:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
19	MYC	chr4:2794553-2794752	K562	blood:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
20	E2F6	chr4:2794453-2794900	K562	blood:	n/a	chr4:2794631-2794643 chr4:2794627-2794642
21	POLR2A	chr4:2794514-2794963	HCT-116	colon:	n/a	n/a
22	ZBTB7A	chr4:2794522-2794721	HepG2	liver:	n/a	n/a
23	POLR2A	chr4:2794370-2794681	HepG2	liver:	n/a	n/a
24	CEBPD	chr4:2794478-2794851	HepG2	liver:	n/a	n/a
25	E2F6	chr4:2794373-2794890	A549	lung:	n/a	chr4:2794631-2794643 chr4:2794627-2794642
26	MAX	chr4:2794393-2794896	MCF-7	breast:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
27	GTF2F1	chr4:2794505-2794608	H1-hESC	embryonic stem cell:	n/a	n/a
28	REST	chr4:2794280-2794582	K562	blood:	n/a	chr4:2794432-2794445 chr4:2794414-2794428 chr4:2794439-2794448
29	TAF1	chr4:2794411-2794924	HepG2	liver:	n/a	n/a
30	MAX	chr4:2794410-2794904	K562	blood:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
31	ZBTB7A	chr4:2794414-2795651	K562	blood:	n/a	n/a
32	ZKSCAN1	chr4:2794454-2794683	Hela-S3	cervix:	n/a	n/a
33	EBF1	chr4:2794483-2794698	GM12878	blood:	n/a	chr4:2794588-2794599
34	MAZ	chr4:2794513-2794843	Hela-S3	cervix:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
35	E2F6	chr4:2794424-2794949	K562	blood:	n/a	chr4:2794631-2794643 chr4:2794627-2794642
36	MAX	chr4:2794350-2794806	HepG2	liver:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
37	MAZ	chr4:2794479-2794909	GM12878	blood:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
38	POLR2A	chr4:2794425-2794635	HepG2	liver:	n/a	n/a
39	POLR2A	chr4:2794425-2795000	HUVEC	blood vessel:	n/a	n/a
40	MAX	chr4:2794209-2794913	ECC-1	luminal epithelium:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
41	USF1	chr4:2794453-2794739	SK-N-SH_RA	brain:	n/a	n/a
42	ZBTB7A	chr4:2794493-2794790	HepG2	liver:	n/a	n/a
43	MAZ	chr4:2794403-2795121	IMR90	lung:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
44	BHLHE40	chr4:2794438-2794755	K562	blood:	n/a	n/a
45	USF1	chr4:2794335-2794804	K562	blood:	n/a	n/a
46	MAX	chr4:2794437-2794769	NB4	blood:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
47	HMGN3	chr4:2794444-2794931	K562	blood:	n/a	n/a
48	MAX	chr4:2794438-2794719	H1-hESC	embryonic stem cell:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2794622-2794629 chr4:2794621-2794630
49	USF1	chr4:2794414-2794716	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZBTB7A	chr4:2794263-2795708	ECC-1	luminal epithelium:	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	chr17:56708745..56710384-chr4:2792772..2795707,2	MCF-7	breast:
4	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
5	chr4:2747762..2749631-chr4:2792951..2795246,2	MCF-7	breast:
6	chr4:2793408..2795261-chr4:2937928..2940807,2	MCF-7	breast:
7	chr4:2793270..2794844-chr4:2830129..2831853,2	MCF-7	breast:
8	chr4:2794525..2804465-chr4:2841103..2847851,19	MCF-7	breast:
9	chr4:2793663..2796017-chr4:2810077..2811741,2	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	chr4:2757714..2759449-chr4:2793017..2796252,4	K562	blood:
13	chr4:2745843..2747557-chr4:2792852..2794917,2	MCF-7	breast:
14	chr4:2793845..2803067-chr4:2816443..2823671,22	MCF-7	breast:
15	chr4:2747261..2749525-chr4:2793563..2796343,2	K562	blood:

Variant related genes	Relation type
SH3BP2	TF binding region
ENSG00000168884	Chromatin interaction
ENSG00000087269	Chromatin interaction
ENSG00000109736	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000087266	Chromatin interaction
ENSG00000249673	Chromatin interaction
ENSG00000087274	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	esv3439511	chr4:2793779-2796327	Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
21	esv3430511	chr4:2794104-2796177	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
22	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
23	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:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2786600-2794800	Enhancers	Primary B cells from cord blood	blood
2	chr4:2786800-2794800	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr4:2786800-2794800	Enhancers	Primary B cells from peripheral blood	blood
4	chr4:2787400-2794800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:2787800-2794800	Enhancers	Fetal Muscle Leg	muscle
6	chr4:2789800-2794800	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr4:2789800-2794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:2790000-2794800	Weak transcription	Brain Substantia Nigra	brain
9	chr4:2790200-2795400	Weak transcription	Fetal Lung	lung
10	chr4:2790400-2794600	Weak transcription	Thymus	Thymus
11	chr4:2790600-2794800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr4:2790600-2795000	Weak transcription	HSMMtube	muscle
13	chr4:2790600-2795200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr4:2790800-2794800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr4:2790800-2794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr4:2790800-2794800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr4:2791000-2795000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr4:2791400-2795200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:2791600-2795200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:2792000-2794600	Flanking Active TSS	HepG2	liver
21	chr4:2792000-2794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr4:2792200-2794800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr4:2792200-2794800	Enhancers	Placenta	Placenta
24	chr4:2792800-2794800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr4:2793000-2794800	Enhancers	Fetal Intestine Small	intestine
26	chr4:2793200-2794800	Enhancers	Esophagus	oesophagus
27	chr4:2793200-2794800	Enhancers	Sigmoid Colon	Sigmoid Colon
28	chr4:2793400-2794600	Enhancers	Right Ventricle	heart
29	chr4:2793400-2794800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
30	chr4:2793400-2794800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr4:2793400-2794800	Enhancers	Primary hematopoietic stem cells	blood
32	chr4:2793400-2794800	Enhancers	Left Ventricle	heart
33	chr4:2793400-2794800	Enhancers	Pancreas	Pancrea
34	chr4:2793400-2795000	Enhancers	Stomach Mucosa	stomach
35	chr4:2793600-2794800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr4:2793600-2794800	Enhancers	Fetal Intestine Large	intestine
37	chr4:2793800-2794600	Enhancers	Colon Smooth Muscle	Colon
38	chr4:2793800-2794600	Enhancers	Right Atrium	heart
39	chr4:2793800-2794800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
40	chr4:2793800-2794800	Enhancers	Gastric	stomach
41	chr4:2793800-2794800	Enhancers	Lung	lung
42	chr4:2794000-2794600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:2794000-2794600	Enhancers	Brain Anterior Caudate	brain
44	chr4:2794000-2794600	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr4:2794000-2794600	Enhancers	GM12878-XiMat	blood
46	chr4:2794000-2794800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:2794000-2794800	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr4:2794000-2794800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr4:2794000-2794800	Enhancers	Fetal Heart	heart
50	chr4:2794000-2794800	Enhancers	Hela-S3	cervix

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