Variant report

Variant	rs4548393
Chromosome Location	chr1:185161765-185161766
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	chr1:185147958..185150868-chr1:185161570..185163115,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10911688	0.91[AFR][1000 genomes]
rs12070618	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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127200-185169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185127400-185163400	Weak transcription	Esophagus	oesophagus
3	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:185127600-185170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
6	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
7	chr1:185128000-185166400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:185128400-185201800	Weak transcription	Gastric	stomach
10	chr1:185128600-185168200	Weak transcription	Fetal Heart	heart
11	chr1:185128600-185171400	Weak transcription	Fetal Brain Male	brain
12	chr1:185131600-185173000	Weak transcription	Brain Substantia Nigra	brain
13	chr1:185134000-185170600	Weak transcription	Lung	lung
14	chr1:185134600-185193200	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:185135000-185162800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:185136600-185167200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr1:185136800-185171200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:185137200-185166800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:185137200-185177200	Weak transcription	Primary B cells from cord blood	blood
20	chr1:185137200-185191400	Weak transcription	Brain Anterior Caudate	brain
21	chr1:185137400-185168000	Weak transcription	Fetal Intestine Large	intestine
22	chr1:185137400-185177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:185137400-185191200	Weak transcription	Brain Hippocampus Middle	brain
24	chr1:185137400-185191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr1:185138000-185182200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:185138000-185186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:185138200-185171400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:185139600-185177400	Weak transcription	Fetal Kidney	kidney
30	chr1:185139800-185165400	Weak transcription	Thymus	Thymus
31	chr1:185139800-185167000	Weak transcription	Fetal Lung	lung
32	chr1:185139800-185168000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:185139800-185191400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:185140000-185164200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr1:185140000-185190800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr1:185140000-185191600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:185144800-185181200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr1:185145000-185162800	Weak transcription	Brain Cingulate Gyrus	brain
39	chr1:185145000-185170400	Weak transcription	Pancreas	Pancrea
40	chr1:185145000-185182400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:185145200-185166200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:185145200-185191400	Weak transcription	Stomach Smooth Muscle	stomach
43	chr1:185148400-185193400	Weak transcription	Fetal Thymus	thymus
44	chr1:185151000-185193200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr1:185152200-185200800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr1:185153200-185191600	Weak transcription	Aorta	Aorta
47	chr1:185154400-185167200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:185154400-185167200	Weak transcription	Primary T cells from cord blood	blood
49	chr1:185154400-185191600	Weak transcription	Ovary	ovary
50	chr1:185157200-185163600	Strong transcription	Placenta	Placenta

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