Variant report

Variant	rs1203857
Chromosome Location	chr4:2507106-2507107
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	chr4:2484475..2486379-chr4:2505207..2507699,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1070968	0.81[EUR][1000 genomes]
rs1203847	0.89[AFR][1000 genomes]
rs1203848	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432548	chr4:1725009-2652494	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	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
3	nsv1012665	chr4:2045458-2517751	Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1009347	chr4:2202662-2517790	Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv518472	chr4:2348405-2516418	Enhancers Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:2475400-2518600	Strong transcription	Dnd41	blood
2	chr4:2477000-2518600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:2483600-2507600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:2487000-2522400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr4:2489000-2520800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:2489600-2520400	Strong transcription	Fetal Intestine Small	intestine
7	chr4:2489800-2518600	Strong transcription	Fetal Thymus	thymus
8	chr4:2490200-2518000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr4:2490800-2510200	Strong transcription	Primary T cells from cord blood	blood
10	chr4:2490800-2518200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr4:2490800-2518400	Strong transcription	HUES48 Cell Line	embryonic stem cell
12	chr4:2490800-2518400	Strong transcription	Fetal Intestine Large	intestine
13	chr4:2490800-2518600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr4:2491000-2517600	Strong transcription	Fetal Muscle Leg	muscle
15	chr4:2491000-2518200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr4:2491000-2518600	Strong transcription	Fetal Brain Female	brain
17	chr4:2491200-2518200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:2491200-2518600	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:2491200-2519800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr4:2491600-2518600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:2491800-2509200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr4:2491800-2517800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr4:2494600-2511600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr4:2495000-2509400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:2495000-2518400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr4:2495000-2518600	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr4:2495800-2517800	Weak transcription	Psoas Muscle	Psoas
28	chr4:2496800-2507200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr4:2497200-2520400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:2497400-2517800	Strong transcription	Duodenum Mucosa	Duodenum
31	chr4:2498200-2517600	Weak transcription	Right Atrium	heart
32	chr4:2498400-2509400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:2499400-2518200	Weak transcription	Small Intestine	intestine
34	chr4:2500600-2510400	Strong transcription	GM12878-XiMat	blood
35	chr4:2500600-2512000	Strong transcription	Primary B cells from peripheral blood	blood
36	chr4:2500600-2518200	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr4:2500600-2518600	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr4:2501000-2510000	Strong transcription	HSMMtube	muscle
39	chr4:2501400-2516200	Strong transcription	K562	blood
40	chr4:2502200-2516600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:2502400-2517600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:2502600-2508000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr4:2503200-2517400	Weak transcription	Fetal Heart	heart
44	chr4:2503200-2519200	Weak transcription	Fetal Brain Male	brain
45	chr4:2503400-2508800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr4:2503400-2515000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:2503600-2512200	Weak transcription	Ovary	ovary
48	chr4:2503800-2507800	Weak transcription	NHLF	lung
49	chr4:2503800-2509000	Weak transcription	Brain Germinal Matrix	brain
50	chr4:2503800-2509000	Weak transcription	Brain Inferior Temporal Lobe	brain

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