Variant report

Variant	rs4549363
Chromosome Location	chr4:7910798-7910799
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7909759..7912161-chr4:7939233..7941760,2	MCF-7	breast:
2	chr4:7907878..7909854-chr4:7910012..7912974,3	MCF-7	breast:
3	chr4:7909447..7912567-chr4:7940305..7942478,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228919	Chromatin interaction
ENSG00000196526	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10938695	0.95[ASN][1000 genomes]
rs13115283	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13127935	0.94[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs16841407	0.81[CHB][hapmap];0.86[JPT][hapmap];0.90[ASN][1000 genomes]
rs28376859	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28500712	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28503942	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28572044	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28681260	0.86[ASN][1000 genomes]
rs4447866	0.87[CHB][hapmap]
rs59283470	0.84[AMR][1000 genomes]
rs59521811	0.94[ASN][1000 genomes]
rs62289323	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62289332	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6824410	0.93[CHB][hapmap];0.91[JPT][hapmap];0.89[ASN][1000 genomes]
rs6824700	0.86[CHB][hapmap];0.85[JPT][hapmap]
rs6831381	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6839119	1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs6844956	0.94[CHB][hapmap];0.91[JPT][hapmap];0.88[ASN][1000 genomes]
rs6845653	0.94[ASN][1000 genomes]
rs7375284	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7376648	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7378106	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7441783	0.82[CHB][hapmap]

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	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7894200-7912400	Weak transcription	Fetal Intestine Large	intestine
2	chr4:7899800-7930600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr4:7900200-7912400	Weak transcription	NHEK	skin
4	chr4:7900800-7914400	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr4:7901600-7914400	Enhancers	Fetal Muscle Leg	muscle
6	chr4:7903400-7911400	Weak transcription	Pancreas	Pancrea
7	chr4:7903400-7911600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr4:7903600-7915000	Enhancers	Fetal Stomach	stomach
9	chr4:7904800-7911200	Weak transcription	Gastric	stomach
10	chr4:7904800-7912200	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:7905000-7911200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr4:7905200-7911200	Weak transcription	Small Intestine	intestine
13	chr4:7905200-7911800	Weak transcription	Aorta	Aorta
14	chr4:7905600-7912400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr4:7906000-7911000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr4:7906000-7914200	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr4:7906200-7911600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:7906200-7914400	Enhancers	HUVEC	blood vessel
19	chr4:7907000-7912400	Weak transcription	Left Ventricle	heart
20	chr4:7907800-7911000	Weak transcription	Colonic Mucosa	Colon
21	chr4:7907800-7911200	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr4:7907800-7911400	Weak transcription	Lung	lung
23	chr4:7907800-7911600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr4:7907800-7911600	Weak transcription	Esophagus	oesophagus
25	chr4:7907800-7911800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:7907800-7912200	Weak transcription	Brain Substantia Nigra	brain
27	chr4:7907800-7912200	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr4:7907800-7914200	Enhancers	Brain Germinal Matrix	brain
29	chr4:7907800-7935800	Weak transcription	Right Ventricle	heart
30	chr4:7908000-7911200	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr4:7908000-7911200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:7908000-7911400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr4:7908000-7911400	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr4:7908000-7911400	Weak transcription	Brain Cingulate Gyrus	brain
35	chr4:7908000-7911400	Weak transcription	Brain Hippocampus Middle	brain
36	chr4:7908000-7911400	Weak transcription	Fetal Brain Male	brain
37	chr4:7908000-7911400	Enhancers	NHDF-Ad	bronchial
38	chr4:7908000-7911800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:7908000-7911800	Enhancers	Colon Smooth Muscle	Colon
40	chr4:7908000-7912200	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:7908000-7912600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr4:7908000-7912800	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr4:7908200-7911400	Weak transcription	Brain Anterior Caudate	brain
44	chr4:7908200-7912600	Enhancers	HepG2	liver
45	chr4:7908400-7911000	Weak transcription	HMEC	breast
46	chr4:7908400-7911200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:7908400-7911400	Weak transcription	Brain Angular Gyrus	brain
48	chr4:7908400-7911400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr4:7908400-7911800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr4:7908400-7912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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