Variant report

Variant	rs1281125
Chromosome Location	chr4:8203537-8203538
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:8202937..8205415-chr4:8232393..8234006,2	K562	blood:
2	chr4:8189199..8191768-chr4:8203536..8206206,2	MCF-7	breast:
3	chr4:8199393..8202510-chr4:8203198..8206188,4	MCF-7	breast:
4	chr4:8181697..8186152-chr4:8199354..8203571,7	MCF-7	breast:
5	chr4:8203500..8205646-chr4:8217325..8220224,2	MCF-7	breast:
6	chr4:8158369..8164233-chr4:8200767..8204083,4	MCF-7	breast:
7	chr4:8199821..8202591-chr4:8203028..8206014,3	K562	blood:

Variant related genes	Relation type
ENSG00000163995	Chromatin interaction
ENSG00000125089	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1281116	0.87[EUR][1000 genomes]
rs1281121	0.95[CEU][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1281124	0.95[CEU][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1298472	0.94[CEU][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73079705	0.80[EUR][1000 genomes]
rs73798644	0.82[EUR][1000 genomes]
rs753385	0.95[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]

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	nsv878591	chr4:8063501-8207083	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8195800-8204200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr4:8200000-8204000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
3	chr4:8200000-8206000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr4:8200200-8203800	Active TSS	Rectal Smooth Muscle	rectum
5	chr4:8200200-8204000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr4:8200200-8204000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr4:8200200-8204800	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr4:8200200-8205800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:8200400-8203600	Flanking Active TSS	Primary T cells from cord blood	blood
10	chr4:8200400-8203600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
11	chr4:8200400-8203600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr4:8200400-8204000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:8200400-8204000	Active TSS	Brain Anterior Caudate	brain
14	chr4:8200400-8204400	Flanking Active TSS	Fetal Thymus	thymus
15	chr4:8200600-8203600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr4:8200600-8203800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr4:8200600-8204000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:8200600-8204000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:8200600-8205200	Flanking Active TSS	Dnd41	blood
20	chr4:8200800-8203800	Flanking Active TSS	Fetal Muscle Leg	muscle
21	chr4:8201200-8204600	Active TSS	Brain Hippocampus Middle	brain
22	chr4:8201400-8203800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr4:8201400-8203800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr4:8201800-8204600	Flanking Active TSS	Liver	Liver
25	chr4:8201800-8204600	Flanking Active TSS	GM12878-XiMat	blood
26	chr4:8201800-8204800	Flanking Active TSS	Primary B cells from peripheral blood	blood
27	chr4:8202000-8204000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr4:8202000-8204000	Flanking Active TSS	HUVEC	blood vessel
29	chr4:8202000-8204800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
30	chr4:8202200-8203600	Transcr. at gene 5' and 3'	NHEK	skin
31	chr4:8202200-8204400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr4:8202400-8203800	Active TSS	Thymus	Thymus
33	chr4:8202400-8204200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr4:8202400-8205400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr4:8202600-8203600	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:8202600-8203600	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
37	chr4:8202600-8203600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr4:8202600-8204000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr4:8202600-8204000	Transcr. at gene 5' and 3'	HMEC	breast
40	chr4:8202600-8204200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
41	chr4:8202600-8204800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
42	chr4:8202600-8207600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr4:8202800-8203600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:8202800-8204200	Enhancers	Lung	lung
45	chr4:8202800-8204600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr4:8202800-8205000	Enhancers	Pancreas	Pancrea
47	chr4:8202800-8205000	Enhancers	Stomach Mucosa	stomach
48	chr4:8203000-8203600	Enhancers	Duodenum Mucosa	Duodenum
49	chr4:8203000-8203600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
50	chr4:8203000-8203600	Enhancers	Left Ventricle	heart

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