Variant report

Variant	rs2850977
Chromosome Location	chr4:102058325-102058326
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:102058000..102061139-chr4:102062648..102064879,3	MCF-7	breast:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2135613	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2659536	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2659547	0.82[EUR][1000 genomes]
rs2659550	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2695206	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2732506	0.94[ASN][1000 genomes]
rs2732516	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28791227	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs963065	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv879672	chr4:101989816-102058842	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
6	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1011351	chr4:102056024-102450302	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102026200-102068600	Weak transcription	Primary T cells from cord blood	blood
2	chr4:102046600-102058600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:102046800-102058600	Weak transcription	Gastric	stomach
4	chr4:102048800-102058600	Weak transcription	Aorta	Aorta
5	chr4:102049200-102064800	Weak transcription	HMEC	breast
6	chr4:102050000-102058400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:102050000-102060200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:102050400-102058600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr4:102054600-102058400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:102055600-102059000	Enhancers	Primary B cells from peripheral blood	blood
11	chr4:102056400-102059000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr4:102056600-102062200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:102056800-102059200	Weak transcription	Brain Angular Gyrus	brain
14	chr4:102057200-102058400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:102057200-102058600	Weak transcription	Brain Substantia Nigra	brain
16	chr4:102057200-102059400	Weak transcription	Brain Hippocampus Middle	brain
17	chr4:102057200-102059600	Enhancers	Brain Anterior Caudate	brain
18	chr4:102057200-102061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:102057200-102061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:102057200-102061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr4:102057400-102059600	Enhancers	A549	lung
22	chr4:102057400-102060600	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:102057400-102062400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr4:102057600-102058600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:102057600-102058600	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr4:102057600-102058600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:102057600-102058600	Weak transcription	Small Intestine	intestine
28	chr4:102057600-102061400	Weak transcription	Primary B cells from cord blood	blood
29	chr4:102057600-102062200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr4:102057600-102062200	Weak transcription	Left Ventricle	heart
31	chr4:102057600-102062800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:102057600-102063400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr4:102057800-102058400	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr4:102057800-102058800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr4:102057800-102059600	Enhancers	Colon Smooth Muscle	Colon
36	chr4:102058000-102058400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr4:102058000-102059000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr4:102058000-102061400	Weak transcription	GM12878-XiMat	blood
39	chr4:102058200-102058400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr4:102058200-102061400	Weak transcription	Stomach Mucosa	stomach

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