Variant report

Variant	rs13152394
Chromosome Location	chr4:8212524-8212525
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	POLR2A	chr4:8212103-8214260	HepG2	liver:	n/a	n/a
2	ZNF384	chr4:8212348-8212562	K562	blood:	n/a	n/a
3	CEBPB	chr4:8212340-8212687	ECC-1	luminal epithelium:	n/a	chr4:8212532-8212540
4	CEBPB	chr4:8212349-8212549	A549	lung:	n/a	chr4:8212532-8212540
5	CEBPB	chr4:8212361-8212674	ECC-1	luminal epithelium:	n/a	chr4:8212532-8212540
6	CTCF	chr4:8212440-8212590	HPAF	blood vessel:	n/a	chr4:8212540-8212558
7	CEBPB	chr4:8212384-8212584	Hela-S3	cervix:	n/a	chr4:8212532-8212540
8	CTCF	chr4:8212520-8212670	HRE	kidney:	n/a	chr4:8212540-8212558

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:8211892..8215889-chr4:8218251..8222766,5	MCF-7	breast:
2	chr4:8209569..8211422-chr4:8212311..8214321,2	K562	blood:

Variant related genes	Relation type
SH3TC1	TF binding region
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1078861	0.81[CEU][hapmap]
rs1983342	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs753959	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7677412	0.88[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010809	chr4:8097627-8292324	Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1002794	chr4:8110083-8490934	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv878593	chr4:8125788-8233341	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv461216	chr4:8154534-8276411	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv593626	chr4:8154534-8276411	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv878594	chr4:8154534-8286916	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	nsv878595	chr4:8154534-8390646	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv470012	chr4:8171401-8233341	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv878596	chr4:8171401-8254784	Genic enhancers Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv878597	chr4:8171401-8294196	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers 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	18 gene(s)	inside rSNPs	diseases
11	nsv829853	chr4:8172065-8320868	Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv869928	chr4:8195069-8214848	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv878598	chr4:8195705-8254784	Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv878599	chr4:8195705-8293398	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	esv2763338	chr4:8199091-8260812	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	esv1831794	chr4:8199833-8233341	Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv593627	chr4:8202211-8311043	Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
18	nsv878600	chr4:8209447-8312158	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8203000-8216200	Weak transcription	Osteobl	bone
2	chr4:8203000-8216400	Weak transcription	Hela-S3	cervix
3	chr4:8203200-8222400	Weak transcription	Brain Substantia Nigra	brain
4	chr4:8203400-8216400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr4:8203400-8216600	Weak transcription	Right Atrium	heart
6	chr4:8203600-8216600	Weak transcription	Left Ventricle	heart
7	chr4:8203800-8216600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr4:8203800-8216600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:8203800-8224800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr4:8204000-8216600	Weak transcription	Brain Anterior Caudate	brain
11	chr4:8204200-8216000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:8204600-8218800	Weak transcription	Brain Hippocampus Middle	brain
13	chr4:8204800-8222600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:8205000-8219200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr4:8205200-8219800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr4:8206400-8214200	Genic enhancers	Fetal Thymus	thymus
17	chr4:8207800-8212600	Weak transcription	A549	lung
18	chr4:8207800-8216000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr4:8208000-8212600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:8208000-8216200	Weak transcription	NHLF	lung
21	chr4:8208000-8216600	Weak transcription	Right Ventricle	heart
22	chr4:8208000-8216800	Weak transcription	Stomach Mucosa	stomach
23	chr4:8208200-8220800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr4:8208200-8222000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr4:8208200-8226800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr4:8208400-8213400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr4:8208400-8213800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr4:8208400-8221000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr4:8208600-8217000	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:8208600-8221400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr4:8208600-8222600	Strong transcription	Primary B cells from peripheral blood	blood
32	chr4:8208600-8227400	Strong transcription	Fetal Intestine Small	intestine
33	chr4:8209200-8214200	Strong transcription	HMEC	breast
34	chr4:8209600-8216600	Strong transcription	Lung	lung
35	chr4:8209800-8212800	Genic enhancers	Thymus	Thymus
36	chr4:8209800-8212800	Genic enhancers	Monocytes-CD14+_RO01746	blood
37	chr4:8209800-8215800	Weak transcription	Primary T cells from cord blood	blood
38	chr4:8210000-8216800	Weak transcription	GM12878-XiMat	blood
39	chr4:8210000-8219400	Weak transcription	Dnd41	blood
40	chr4:8210800-8215000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr4:8211200-8216200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr4:8211400-8214000	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr4:8211400-8214000	Weak transcription	Esophagus	oesophagus
44	chr4:8211600-8212600	Enhancers	Primary hematopoietic stem cells	blood
45	chr4:8211600-8213000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr4:8211600-8213200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr4:8211600-8213200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr4:8211600-8213200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr4:8211600-8213400	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr4:8211600-8214400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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