Variant report

Variant	rs1549251
Chromosome Location	chr5:37752460-37752461
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37750239..37752814-chr5:37754556..37757334,3	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10071815	1.00[EUR][1000 genomes]
rs13188890	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1549252	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28377651	1.00[EUR][1000 genomes]
rs28874633	1.00[EUR][1000 genomes]
rs2910798	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2972941	1.00[CEU][hapmap];0.93[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2973074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2973085	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs41270339	0.86[EUR][1000 genomes]
rs55654436	0.86[EUR][1000 genomes]
rs56279820	0.86[EUR][1000 genomes]
rs59898254	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6451341	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs67885658	0.86[EUR][1000 genomes]
rs72743159	0.86[EUR][1000 genomes]
rs72743164	0.86[EUR][1000 genomes]
rs72743166	0.97[EUR][1000 genomes]
rs72743167	0.86[EUR][1000 genomes]
rs72743169	0.86[EUR][1000 genomes]
rs72743170	0.86[EUR][1000 genomes]
rs72743176	0.86[EUR][1000 genomes]
rs72743180	0.86[EUR][1000 genomes]
rs72743185	0.86[EUR][1000 genomes]
rs72743187	0.86[EUR][1000 genomes]
rs72743190	0.86[EUR][1000 genomes]
rs72743192	0.86[EUR][1000 genomes]
rs72743193	0.86[EUR][1000 genomes]
rs72743196	0.86[EUR][1000 genomes]
rs72743200	0.86[EUR][1000 genomes]
rs72743201	0.86[EUR][1000 genomes]
rs72743202	0.86[EUR][1000 genomes]
rs72745106	0.86[EUR][1000 genomes]
rs72745108	0.86[EUR][1000 genomes]
rs7448783	1.00[CEU][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7705963	1.00[EUR][1000 genomes]
rs7722257	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7737640	1.00[EUR][1000 genomes]
rs9283746	0.80[EUR][1000 genomes]

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	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
2	nsv1023871	chr5:37330018-37804744	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv537729	chr5:37330018-37804744	Weak transcription Flanking Active TSS Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv597846	chr5:37430215-37813591	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv881383	chr5:37485316-37773877	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37717800-37756200	Weak transcription	Right Ventricle	heart
2	chr5:37718400-37755800	Weak transcription	Spleen	Spleen
3	chr5:37721400-37764200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:37728000-37757200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr5:37728000-37758800	Weak transcription	Brain Germinal Matrix	brain
6	chr5:37728800-37754400	Weak transcription	Placenta	Placenta
7	chr5:37729400-37753200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr5:37729600-37755800	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr5:37730200-37757000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr5:37737800-37754000	Weak transcription	Left Ventricle	heart
11	chr5:37738400-37757200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr5:37738800-37756400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:37738800-37757400	Weak transcription	Brain Anterior Caudate	brain
14	chr5:37739000-37757200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:37739200-37757600	Weak transcription	A549	lung
16	chr5:37739400-37752800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr5:37739600-37757200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr5:37740800-37756200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr5:37741200-37757400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:37742400-37753200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:37742800-37753400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr5:37743800-37754800	Weak transcription	Liver	Liver
23	chr5:37744200-37753200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr5:37744200-37755000	Weak transcription	Ovary	ovary
25	chr5:37744200-37755800	Weak transcription	Gastric	stomach
26	chr5:37744200-37757200	Weak transcription	Dnd41	blood
27	chr5:37744200-37769200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:37744600-37754000	Weak transcription	Fetal Stomach	stomach
29	chr5:37744600-37754400	Weak transcription	Aorta	Aorta
30	chr5:37744600-37754600	Weak transcription	Primary T cells from cord blood	blood
31	chr5:37744600-37755400	Weak transcription	Primary B cells from peripheral blood	blood
32	chr5:37744600-37756800	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr5:37744600-37757000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:37744600-37769400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:37745200-37757400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr5:37748000-37754600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr5:37748600-37753000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr5:37748800-37760000	Weak transcription	Fetal Brain Female	brain
39	chr5:37749600-37753600	Weak transcription	Adipose Nuclei	Adipose
40	chr5:37749600-37756800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr5:37750000-37755600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr5:37750200-37757800	Weak transcription	Colon Smooth Muscle	Colon
43	chr5:37750800-37756800	Weak transcription	Brain Angular Gyrus	brain
44	chr5:37751400-37753800	Strong transcription	Primary B cells from cord blood	blood
45	chr5:37751600-37756600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr5:37751800-37755800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:37751800-37756400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr5:37752000-37753400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr5:37752000-37754400	Weak transcription	NH-A	brain
50	chr5:37752000-37756200	Weak transcription	NHEK	skin

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