Variant report

Variant	rs4317201
Chromosome Location	chr4:16209019-16209020
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:16208002..16209532-chr4:16222968..16225755,2	MCF-7	breast:
2	chr4:16207822..16210788-chr4:16227616..16230389,3	MCF-7	breast:
3	chr4:16207543..16210716-chr4:16226514..16229225,4	K562	blood:
4	chr4:16205687..16210095-chr4:16211514..16215415,4	K562	blood:
5	chr4:16207884..16210057-chr4:16223808..16226102,2	K562	blood:
6	chr4:16206563..16211517-chr4:16224602..16229225,6	K562	blood:
7	chr4:16208663..16211668-chr4:16215718..16220403,4	K562	blood:

Variant related genes	Relation type
ENSG00000169762	Chromatin interaction
ENSG00000263327	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10006159	0.84[ASN][1000 genomes]
rs1025897	0.91[ASN][1000 genomes]
rs10939657	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11730977	0.86[ASN][1000 genomes]
rs13133263	0.90[ASN][1000 genomes]
rs192898	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs317856	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs317873	0.86[ASN][1000 genomes]
rs317908	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs36012247	0.85[ASN][1000 genomes]
rs3749543	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6812660	0.90[ASN][1000 genomes]
rs7666361	0.82[ASN][1000 genomes]
rs961449	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv998299	chr4:16031459-16226466	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1004821	chr4:16055996-16830629	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv537046	chr4:16055996-16830629	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv537047	chr4:16182060-16375787	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:16168000-16213800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr4:16181200-16223800	Weak transcription	Fetal Brain Male	brain
3	chr4:16193000-16216000	Weak transcription	Spleen	Spleen
4	chr4:16193000-16225800	Weak transcription	Colonic Mucosa	Colon
5	chr4:16193200-16225800	Weak transcription	Fetal Brain Female	brain
6	chr4:16193400-16211200	Weak transcription	Placenta	Placenta
7	chr4:16198600-16211200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:16198600-16216400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr4:16198600-16221200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:16198600-16222400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:16198800-16211400	Weak transcription	Aorta	Aorta
12	chr4:16198800-16218800	Weak transcription	HSMM	muscle
13	chr4:16198800-16225600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:16198800-16226000	Weak transcription	NHEK	skin
15	chr4:16198800-16226400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr4:16199800-16209800	Weak transcription	NHLF	lung
17	chr4:16199800-16215800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:16200000-16214200	Weak transcription	Fetal Heart	heart
19	chr4:16200800-16213600	Weak transcription	HUVEC	blood vessel
20	chr4:16200800-16214800	Weak transcription	Stomach Mucosa	stomach
21	chr4:16200800-16218000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr4:16202800-16220800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:16203600-16209600	Enhancers	Brain Anterior Caudate	brain
24	chr4:16203800-16211200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr4:16204200-16213800	Weak transcription	Ovary	ovary
26	chr4:16204400-16209800	Enhancers	Brain Substantia Nigra	brain
27	chr4:16204600-16209600	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr4:16204600-16210400	Enhancers	Brain Angular Gyrus	brain
29	chr4:16204800-16210800	Enhancers	Brain Hippocampus Middle	brain
30	chr4:16204800-16226600	Weak transcription	NH-A	brain
31	chr4:16205000-16209400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr4:16205200-16225600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr4:16205800-16211600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:16206000-16211200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:16206000-16211600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:16206400-16210000	Weak transcription	Fetal Intestine Large	intestine
37	chr4:16206400-16216000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr4:16206400-16218400	Weak transcription	Fetal Lung	lung
39	chr4:16206600-16218400	Weak transcription	Rectal Smooth Muscle	rectum
40	chr4:16206800-16209200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr4:16207000-16209200	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr4:16207200-16209200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr4:16207200-16209200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr4:16207200-16209200	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr4:16207200-16209400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr4:16207200-16209600	Enhancers	Brain Cingulate Gyrus	brain
47	chr4:16207200-16210200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:16207400-16209400	Genic enhancers	Primary B cells from cord blood	blood
49	chr4:16207400-16210600	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr4:16207400-16216000	Weak transcription	Pancreatic Islets	Pancreatic Islet

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