Variant report

Variant	rs4648015
Chromosome Location	chr4:103488938-103488939
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103482685..103484587-chr4:103487449..103489665,2	MCF-7	breast:
2	chr4:103481967..103484496-chr4:103488750..103491219,2	MCF-7	breast:
3	chr4:103421129..103424060-chr4:103488906..103491146,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260651	Chromatin interaction
ENSG00000109320	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4648002	1.00[YRI][hapmap]
rs4648016	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648043	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648091	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648116	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648134	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs7679591	1.00[CEU][hapmap];1.00[YRI][hapmap]

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	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv1003490	chr4:103391483-103521772	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1004030	chr4:103419352-103504042	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
4	nsv537203	chr4:103419352-103504042	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103443200-103496000	Weak transcription	A549	lung
2	chr4:103445000-103496600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr4:103461200-103490400	Weak transcription	Dnd41	blood
4	chr4:103461600-103496400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:103466800-103498600	Weak transcription	Placenta	Placenta
6	chr4:103467000-103495600	Weak transcription	HepG2	liver
7	chr4:103468800-103490400	Weak transcription	Stomach Mucosa	stomach
8	chr4:103469600-103498000	Weak transcription	Esophagus	oesophagus
9	chr4:103470000-103498000	Weak transcription	Fetal Stomach	stomach
10	chr4:103473400-103524600	Weak transcription	Fetal Brain Male	brain
11	chr4:103473600-103498000	Weak transcription	Aorta	Aorta
12	chr4:103475000-103496600	Weak transcription	HUVEC	blood vessel
13	chr4:103475200-103496400	Weak transcription	Hela-S3	cervix
14	chr4:103476000-103498200	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:103476200-103491200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr4:103476400-103498000	Weak transcription	Fetal Muscle Leg	muscle
17	chr4:103476400-103498200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr4:103478200-103511800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr4:103478600-103498200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr4:103479200-103497800	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr4:103481600-103489000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:103482200-103495400	Weak transcription	Fetal Thymus	thymus
23	chr4:103482200-103498000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr4:103482200-103498800	Weak transcription	Brain Cingulate Gyrus	brain
25	chr4:103482400-103498600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr4:103482800-103496600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr4:103482800-103497800	Weak transcription	Fetal Intestine Large	intestine
28	chr4:103482800-103498000	Weak transcription	Fetal Intestine Small	intestine
29	chr4:103482800-103498200	Weak transcription	Brain Anterior Caudate	brain
30	chr4:103483000-103490000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr4:103483000-103518600	Weak transcription	Small Intestine	intestine
32	chr4:103483200-103490600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
33	chr4:103483200-103498000	Weak transcription	Right Ventricle	heart
34	chr4:103483200-103516600	Weak transcription	Brain Angular Gyrus	brain
35	chr4:103483400-103497800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr4:103483400-103498000	Weak transcription	Pancreas	Pancrea
37	chr4:103483400-103498200	Weak transcription	Left Ventricle	heart
38	chr4:103483400-103498200	Weak transcription	Ovary	ovary
39	chr4:103483400-103541600	Weak transcription	K562	blood
40	chr4:103484000-103490000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr4:103484000-103498000	Weak transcription	Spleen	Spleen
42	chr4:103484800-103491600	Strong transcription	Primary B cells from cord blood	blood
43	chr4:103485400-103489000	Strong transcription	Primary hematopoietic stem cells	blood
44	chr4:103485800-103489400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr4:103485800-103491400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:103486000-103490000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr4:103486000-103490000	Weak transcription	HMEC	breast
48	chr4:103486000-103498000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr4:103486000-103498000	Weak transcription	Liver	Liver
50	chr4:103486000-103498000	Weak transcription	HSMMtube	muscle

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