Variant report

Variant	rs4648085
Chromosome Location	chr4:103522114-103522115
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:103421047..103423943-chr4:103521842..103524468,2	MCF-7	breast:
2	chr4:103521932..103523756-chr4:104022119..104025012,2	K562	blood:
3	chr4:103517813..103519887-chr4:103521880..103524711,2	K562	blood:

Variant related genes	Relation type
ENSG00000260651	Chromatin interaction
ENSG00000109320	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11722146	1.00[YRI][hapmap]
rs12509517	1.00[YRI][hapmap]
rs1585215	1.00[YRI][hapmap]
rs17032683	1.00[YRI][hapmap]
rs2085549	1.00[YRI][hapmap]
rs230492	1.00[YRI][hapmap]
rs230509	1.00[YRI][hapmap]
rs230520	1.00[YRI][hapmap]
rs230534	1.00[YRI][hapmap]
rs230539	1.00[YRI][hapmap]
rs230540	1.00[YRI][hapmap]
rs230542	1.00[YRI][hapmap]
rs2903281	1.00[YRI][hapmap]
rs3774937	1.00[YRI][hapmap]
rs4235404	1.00[YRI][hapmap]
rs4456957	1.00[YRI][hapmap]
rs4648055	1.00[YRI][hapmap]
rs4648065	1.00[MEX][hapmap]
rs4648086	1.00[CHB][hapmap];1.00[LWK][hapmap]
rs4648118	1.00[CHB][hapmap];1.00[LWK][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103473400-103524600	Weak transcription	Fetal Brain Male	brain
2	chr4:103483400-103541600	Weak transcription	K562	blood
3	chr4:103497600-103533400	Strong transcription	Primary B cells from peripheral blood	blood
4	chr4:103500200-103527600	Weak transcription	Pancreas	Pancrea
5	chr4:103500400-103522600	Weak transcription	Psoas Muscle	Psoas
6	chr4:103500400-103528200	Weak transcription	Right Ventricle	heart
7	chr4:103502600-103532800	Weak transcription	Brain Germinal Matrix	brain
8	chr4:103508200-103522800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:103508400-103522400	Weak transcription	Fetal Stomach	stomach
10	chr4:103511200-103525000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr4:103512600-103527600	Weak transcription	Ovary	ovary
12	chr4:103512800-103531800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:103513000-103542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr4:103513200-103522800	Weak transcription	Fetal Intestine Small	intestine
15	chr4:103513200-103536200	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr4:103514000-103523400	Strong transcription	HepG2	liver
17	chr4:103514400-103526000	Strong transcription	Fetal Intestine Large	intestine
18	chr4:103514600-103535800	Strong transcription	Adipose Nuclei	Adipose
19	chr4:103514600-103538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr4:103514600-103539000	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr4:103515000-103539000	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr4:103515200-103522800	Strong transcription	Liver	Liver
23	chr4:103515200-103533200	Strong transcription	Primary B cells from cord blood	blood
24	chr4:103515200-103533400	Strong transcription	Primary hematopoietic stem cells	blood
25	chr4:103515200-103533600	Strong transcription	Duodenum Mucosa	Duodenum
26	chr4:103515200-103538800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr4:103515400-103523200	Strong transcription	Dnd41	blood
28	chr4:103515400-103533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:103515400-103533400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:103515400-103533400	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr4:103515400-103533600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:103515400-103538800	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr4:103515400-103538800	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:103515600-103522400	Strong transcription	Brain Hippocampus Middle	brain
35	chr4:103515600-103533400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr4:103515600-103535600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr4:103515800-103524200	Strong transcription	Stomach Smooth Muscle	stomach
38	chr4:103515800-103526600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:103515800-103535800	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr4:103515800-103538200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:103515800-103538800	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr4:103515800-103538800	Strong transcription	Rectal Smooth Muscle	rectum
43	chr4:103516000-103523800	Strong transcription	HUVEC	blood vessel
44	chr4:103516400-103522800	Strong transcription	Fetal Lung	lung
45	chr4:103516400-103523400	Strong transcription	Fetal Muscle Leg	muscle
46	chr4:103516400-103525000	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr4:103517400-103522200	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr4:103517400-103522200	Genic enhancers	HSMMtube	muscle
49	chr4:103517400-103523200	Strong transcription	Lung	lung
50	chr4:103517600-103541600	Weak transcription	Right Atrium	heart

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