Variant report

Variant	rs4557247
Chromosome Location	chr4:8406953-8406954
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	chr4:8405868..8408180-chr4:8410385..8411900,2	K562	blood:
2	chr4:8404879..8407755-chr4:8409696..8411552,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16842337	1.00[AMR][1000 genomes]
rs16842409	1.00[AMR][1000 genomes]
rs16842423	1.00[AMR][1000 genomes]
rs16842427	1.00[AMR][1000 genomes]
rs16842443	1.00[AMR][1000 genomes]
rs6816060	1.00[AMR][1000 genomes]
rs6816094	1.00[AMR][1000 genomes]
rs6846116	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv878601	chr4:8214767-8440951	Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv878602	chr4:8214767-8448992	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1009011	chr4:8225669-8424831	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv878604	chr4:8315938-8618916	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv1002680	chr4:8357163-8721214	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv461220	chr4:8372944-8458394	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv593638	chr4:8372944-8458394	Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv878609	chr4:8373832-8407406	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv878610	chr4:8377058-8416976	ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv470014	chr4:8390646-8429817	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
12	nsv593639	chr4:8394376-8424108	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv829854	chr4:8402921-8506407	Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:8366400-8411600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr4:8383800-8419000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:8384800-8418600	Strong transcription	Primary T cells from cord blood	blood
4	chr4:8385200-8411600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr4:8385600-8407000	Weak transcription	Stomach Mucosa	stomach
6	chr4:8386400-8408400	Strong transcription	Fetal Intestine Large	intestine
7	chr4:8387400-8412000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr4:8389800-8411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:8394200-8407400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr4:8394800-8409400	Weak transcription	Small Intestine	intestine
11	chr4:8395800-8411800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:8396600-8407200	Weak transcription	Dnd41	blood
13	chr4:8396600-8419400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:8396800-8412400	Weak transcription	Fetal Brain Male	brain
15	chr4:8396800-8415600	Weak transcription	NH-A	brain
16	chr4:8397600-8409400	Weak transcription	HepG2	liver
17	chr4:8397600-8420400	Weak transcription	NHDF-Ad	bronchial
18	chr4:8398200-8409400	Weak transcription	Primary B cells from cord blood	blood
19	chr4:8399000-8407000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr4:8399200-8412000	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:8399400-8411800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr4:8399400-8412000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr4:8399600-8407200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr4:8399600-8407200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr4:8399600-8412000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:8399600-8429400	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:8401400-8407000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:8401600-8407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:8402800-8408400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr4:8403000-8408200	Strong transcription	Fetal Brain Female	brain
31	chr4:8403000-8408200	Strong transcription	Pancreas	Pancrea
32	chr4:8403200-8419400	Strong transcription	Fetal Intestine Small	intestine
33	chr4:8403400-8411400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr4:8403400-8414400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:8403600-8407400	Enhancers	Primary hematopoietic stem cells	blood
36	chr4:8403600-8412200	Strong transcription	Brain Germinal Matrix	brain
37	chr4:8404000-8408000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr4:8404200-8408200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr4:8404200-8408400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr4:8404200-8408400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr4:8404400-8410000	Weak transcription	NHLF	lung
42	chr4:8404600-8411800	Weak transcription	NHEK	skin
43	chr4:8404600-8429400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr4:8404800-8407200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr4:8404800-8407800	Strong transcription	Fetal Stomach	stomach
46	chr4:8404800-8411400	Weak transcription	Right Atrium	heart
47	chr4:8404800-8420600	Weak transcription	Psoas Muscle	Psoas
48	chr4:8405000-8407200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr4:8405000-8407600	Strong transcription	Colonic Mucosa	Colon
50	chr4:8405000-8408200	Strong transcription	HSMM	muscle

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