Variant report

Variant	rs2291379
Chromosome Location	chr4:147176571-147176572
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:147173157..147178069-chr4:147179636..147183576,5	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10519784	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10519786	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10519805	0.80[AMR][1000 genomes]
rs16998677	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17021340	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17021345	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17021355	0.96[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17021362	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17021365	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17021409	0.88[AMR][1000 genomes]
rs4561947	0.88[AMR][1000 genomes]
rs57305184	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58203372	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58738547	0.88[AMR][1000 genomes]
rs58800297	0.96[AMR][1000 genomes]
rs58997046	0.80[AMR][1000 genomes]
rs59524631	0.92[AMR][1000 genomes]
rs59758996	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59811977	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59890707	0.96[AMR][1000 genomes]
rs59916828	0.96[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59937090	0.88[AMR][1000 genomes]
rs60175042	0.96[AMR][1000 genomes]
rs60862748	0.96[AMR][1000 genomes]
rs61016468	0.96[AMR][1000 genomes]
rs61219941	0.88[AMR][1000 genomes]
rs72727982	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461675	chr4:147116864-147768206	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv595651	chr4:147116864-147768206	Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:147163200-147178000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr4:147164800-147177200	Weak transcription	Duodenum Mucosa	Duodenum
3	chr4:147164800-147207200	Weak transcription	Thymus	Thymus
4	chr4:147165000-147207200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr4:147165200-147207200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr4:147165400-147176600	Weak transcription	GM12878-XiMat	blood
7	chr4:147165400-147181600	Weak transcription	Small Intestine	intestine
8	chr4:147165600-147177000	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr4:147166000-147181600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:147166000-147207800	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr4:147166600-147177200	Weak transcription	Primary T cells from cord blood	blood
12	chr4:147166800-147178000	Weak transcription	Left Ventricle	heart
13	chr4:147166800-147181800	Weak transcription	Esophagus	oesophagus
14	chr4:147166800-147181800	Weak transcription	Gastric	stomach
15	chr4:147166800-147186400	Weak transcription	Spleen	Spleen
16	chr4:147166800-147187200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:147166800-147190000	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:147166800-147207200	Weak transcription	Right Ventricle	heart
19	chr4:147167000-147207200	Weak transcription	Aorta	Aorta
20	chr4:147167000-147217600	Weak transcription	Rectal Smooth Muscle	rectum
21	chr4:147167200-147178600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr4:147167400-147178400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:147167400-147185800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:147167400-147209000	Weak transcription	Ovary	ovary
25	chr4:147167600-147177400	Weak transcription	Fetal Lung	lung
26	chr4:147167800-147178600	Weak transcription	Adipose Nuclei	Adipose
27	chr4:147167800-147188600	Weak transcription	Pancreas	Pancrea
28	chr4:147168800-147177000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr4:147169200-147177200	Weak transcription	Cortex derived primary cultured neurospheres	brain
30	chr4:147169800-147176600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:147170000-147178800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr4:147170000-147196400	Weak transcription	Fetal Intestine Small	intestine
33	chr4:147172600-147184600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:147173600-147176800	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr4:147174200-147206800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr4:147174400-147181600	Weak transcription	Placenta	Placenta
37	chr4:147174400-147231200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:147174800-147176600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:147174800-147180400	Weak transcription	Fetal Kidney	kidney
40	chr4:147174800-147180400	Weak transcription	HepG2	liver
41	chr4:147174800-147207800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:147174800-147218400	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr4:147175000-147177200	Weak transcription	Stomach Mucosa	stomach
44	chr4:147175000-147180400	Weak transcription	Fetal Intestine Large	intestine
45	chr4:147175000-147196400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr4:147175200-147178600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr4:147175400-147225400	Weak transcription	Brain Hippocampus Middle	brain
48	chr4:147175600-147179000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr4:147175600-147180000	Weak transcription	Fetal Thymus	thymus
50	chr4:147175600-147184200	Weak transcription	K562	blood

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