Variant report

Variant	rs327107
Chromosome Location	chr4:187608812-187608813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:187607227..187608946-chr4:187613643..187615297,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10002129	1.00[CEU][hapmap];0.91[YRI][hapmap];0.89[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs162181	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs327109	0.91[EUR][1000 genomes]
rs327110	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs327113	0.92[EUR][1000 genomes]
rs455600	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs455935	0.86[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs459796	1.00[CEU][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs461232	1.00[CEU][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6818490	0.92[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025088	chr4:187407683-187674585	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1025244	chr4:187419770-188284813	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1034212	chr4:187437895-188030805	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription 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
4	nsv537438	chr4:187437895-188030805	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv532745	chr4:187471692-188205443	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
6	nsv1022262	chr4:187475862-187848284	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1024705	chr4:187534005-187849091	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv1026970	chr4:187537418-187913351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv596440	chr4:187538133-187848075	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv881509	chr4:187574398-187614434	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:187583000-187614400	Weak transcription	Colonic Mucosa	Colon
2	chr4:187587600-187610200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr4:187591200-187614400	Weak transcription	Ovary	ovary
4	chr4:187598200-187614400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr4:187598400-187609400	Weak transcription	Aorta	Aorta
6	chr4:187600200-187617000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr4:187603800-187609000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr4:187604400-187611600	Enhancers	Fetal Lung	lung
9	chr4:187604600-187618000	Weak transcription	Fetal Stomach	stomach
10	chr4:187604600-187626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr4:187605000-187610400	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr4:187605200-187609000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr4:187605600-187609000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr4:187605800-187611200	Enhancers	Rectal Smooth Muscle	rectum
15	chr4:187605800-187614400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr4:187606000-187609000	Enhancers	Fetal Kidney	kidney
17	chr4:187606000-187610000	Enhancers	NHDF-Ad	bronchial
18	chr4:187606000-187610800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr4:187606000-187610800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr4:187606000-187611800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:187606000-187612000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr4:187606200-187609400	Weak transcription	Pancreas	Pancrea
23	chr4:187606200-187610800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr4:187606200-187611000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:187606200-187614000	Weak transcription	Right Ventricle	heart
26	chr4:187606400-187609200	Weak transcription	Right Atrium	heart
27	chr4:187606400-187609200	Enhancers	Osteobl	bone
28	chr4:187606400-187609400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr4:187606400-187609400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:187606400-187609400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr4:187606400-187609600	Weak transcription	Gastric	stomach
32	chr4:187606400-187614400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr4:187606400-187614400	Weak transcription	Brain Anterior Caudate	brain
34	chr4:187606600-187609600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:187606800-187611200	Enhancers	Fetal Heart	heart
36	chr4:187607000-187609400	Weak transcription	Left Ventricle	heart
37	chr4:187607000-187611600	Enhancers	Colon Smooth Muscle	Colon
38	chr4:187607000-187614400	Weak transcription	Duodenum Mucosa	Duodenum
39	chr4:187607000-187614400	Weak transcription	Stomach Smooth Muscle	stomach
40	chr4:187607200-187609000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:187607400-187609400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr4:187607400-187614000	Weak transcription	Fetal Muscle Leg	muscle
43	chr4:187607400-187614200	Weak transcription	Hela-S3	cervix
44	chr4:187607400-187618200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr4:187607600-187609200	Weak transcription	Brain Hippocampus Middle	brain
46	chr4:187607800-187610800	Enhancers	HepG2	liver
47	chr4:187608000-187609400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr4:187608000-187609400	Weak transcription	Brain Substantia Nigra	brain
49	chr4:187608000-187609400	Weak transcription	Fetal Intestine Large	intestine
50	chr4:187608000-187610400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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