Variant report

Variant	rs75117318
Chromosome Location	chr4:2793938-2793939
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	HNF4A	chr4:2793483-2793971	HepG2	liver:	n/a	chr4:2793727-2793742 chr4:2793727-2793742 chr4:2793729-2793741 chr4:2793727-2793742 chr4:2793727-2793742 chr4:2793727-2793742 chr4:2793729-2793741 chr4:2793728-2793741
2	HNF4A	chr4:2793504-2793954	HepG2	liver:	n/a	chr4:2793727-2793742 chr4:2793727-2793742 chr4:2793729-2793741 chr4:2793727-2793742 chr4:2793727-2793742 chr4:2793727-2793742 chr4:2793729-2793741 chr4:2793728-2793741
3	ZBTB7A	chr4:2793611-2793973	HepG2	liver:	n/a	n/a
4	EBF1	chr4:2793934-2794194	GM12878	blood:	n/a	chr4:2794046-2794059 chr4:2794046-2794057 chr4:2794048-2794057 chr4:2794047-2794057 chr4:2794048-2794057
5	MXI1	chr4:2792579-2794034	HepG2	liver:	n/a	chr4:2793532-2793541
6	HNF4G	chr4:2793525-2793943	HepG2	liver:	n/a	chr4:2793728-2793743 chr4:2793727-2793742 chr4:2793727-2793742 chr4:2793729-2793741 chr4:2793727-2793742 chr4:2793727-2793742 chr4:2793729-2793741 chr4:2793728-2793741
7	MAX	chr4:2793405-2794961	HepG2	liver:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2793915-2793924 chr4:2794622-2794629 chr4:2794621-2794630
8	MAX	chr4:2792479-2794953	HepG2	liver:	n/a	chr4:2794661-2794670 chr4:2794620-2794630 chr4:2793915-2793924 chr4:2794622-2794629 chr4:2794621-2794630
9	ZNF263	chr4:2793660-2793968	HEK293-T-REx	kidney:	n/a	chr4:2793904-2793913

No.	Distal block	Cell Line	Cell type
1	chr17:56708745..56710384-chr4:2792772..2795707,2	MCF-7	breast:
2	chr4:2790052..2809152-chr4:2930639..2948075,83	MCF-7	breast:
3	chr4:2747762..2749631-chr4:2792951..2795246,2	MCF-7	breast:
4	chr4:2793408..2795261-chr4:2937928..2940807,2	MCF-7	breast:
5	chr4:2793270..2794844-chr4:2830129..2831853,2	MCF-7	breast:
6	chr4:2793663..2796017-chr4:2810077..2811741,2	MCF-7	breast:
7	chr4:2755902..2759354-chr4:2793552..2797883,6	K562	blood:
8	chr4:2753714..2768807-chr4:2789818..2806638,47	MCF-7	breast:
9	chr4:2757714..2759449-chr4:2793017..2796252,4	K562	blood:
10	chr4:2745843..2747557-chr4:2792852..2794917,2	MCF-7	breast:
11	chr4:2793845..2803067-chr4:2816443..2823671,22	MCF-7	breast:
12	chr4:2747261..2749525-chr4:2793563..2796343,2	K562	blood:

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

Extended variants
information (count: 20 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:20 , 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

No data

Chromatin state (count:86 , 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	chr4:2787800-2794400	Enhancers	Spleen	Spleen
6	chr4:2787800-2794800	Enhancers	Fetal Muscle Leg	muscle
7	chr4:2788000-2794200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:2789800-2794800	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr4:2789800-2794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:2790000-2794000	Weak transcription	Hela-S3	cervix
11	chr4:2790000-2794400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr4:2790000-2794800	Weak transcription	Brain Substantia Nigra	brain
13	chr4:2790200-2795400	Weak transcription	Fetal Lung	lung
14	chr4:2790400-2794000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:2790400-2794400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr4:2790400-2794400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr4:2790400-2794600	Weak transcription	Thymus	Thymus
18	chr4:2790600-2794800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:2790600-2795000	Weak transcription	HSMMtube	muscle
20	chr4:2790600-2795200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr4:2790800-2794000	Weak transcription	Brain Anterior Caudate	brain
22	chr4:2790800-2794000	Weak transcription	Fetal Heart	heart
23	chr4:2790800-2794200	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr4:2790800-2794400	Weak transcription	Primary T cells from cord blood	blood
25	chr4:2790800-2794400	Weak transcription	Brain Cingulate Gyrus	brain
26	chr4:2790800-2794400	Weak transcription	Brain Germinal Matrix	brain
27	chr4:2790800-2794800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:2790800-2794800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:2790800-2794800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr4:2791000-2795000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr4:2791200-2794200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
32	chr4:2791400-2794000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr4:2791400-2795200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr4:2791600-2794000	Weak transcription	GM12878-XiMat	blood
35	chr4:2791600-2794200	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr4:2791600-2794200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr4:2791600-2794400	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr4:2791600-2795200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr4:2792000-2794600	Flanking Active TSS	HepG2	liver
40	chr4:2792000-2794800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr4:2792200-2794400	Enhancers	Adipose Nuclei	Adipose
42	chr4:2792200-2794800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr4:2792200-2794800	Enhancers	Placenta	Placenta
44	chr4:2792800-2794800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr4:2793000-2794000	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr4:2793000-2794200	Enhancers	Colonic Mucosa	Colon
47	chr4:2793000-2794400	Enhancers	Duodenum Mucosa	Duodenum
48	chr4:2793000-2794400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr4:2793000-2794800	Enhancers	Fetal Intestine Small	intestine
50	chr4:2793200-2794000	Weak transcription	Ovary	ovary

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