Variant report

Variant	rs1444893
Chromosome Location	chr4:82383449-82383450
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	chr4:82381811..82384214-chr4:82385052..82387248,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10010385	1.00[CHB][hapmap];1.00[CHD][hapmap]
rs1077802	0.86[ASW][hapmap];0.80[MKK][hapmap];1.00[YRI][hapmap]
rs1444891	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1562138	0.86[ASW][hapmap];1.00[YRI][hapmap]
rs1975508	0.90[ASN][1000 genomes]
rs2019101	1.00[ASN][1000 genomes]
rs2120817	0.89[MKK][hapmap];0.85[YRI][hapmap]
rs28544156	0.83[ASN][1000 genomes]
rs28560455	0.90[ASN][1000 genomes]
rs2868215	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs56087183	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59520729	0.90[ASN][1000 genomes]
rs59588994	0.90[ASN][1000 genomes]
rs62303600	1.00[ASN][1000 genomes]
rs6535250	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6535251	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6814080	1.00[YRI][hapmap]
rs6839120	1.00[YRI][hapmap]
rs6847612	0.87[YRI][hapmap]
rs755527	1.00[YRI][hapmap]
rs7670580	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7687318	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9307783	0.88[MKK][hapmap];0.85[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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv4404	chr4:82340986-82386148	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82345800-82385800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:82346600-82386600	Weak transcription	Psoas Muscle	Psoas
3	chr4:82346600-82388400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:82349000-82385200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:82352400-82390000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:82354200-82390800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr4:82361400-82386600	Weak transcription	Fetal Kidney	kidney
8	chr4:82362200-82389800	Weak transcription	Fetal Brain Male	brain
9	chr4:82363600-82390400	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:82363600-82391000	Weak transcription	Rectal Smooth Muscle	rectum
11	chr4:82368200-82391400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr4:82369400-82390000	Weak transcription	Brain Germinal Matrix	brain
13	chr4:82369600-82388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr4:82369600-82391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr4:82373600-82390000	Weak transcription	Thymus	Thymus
16	chr4:82374800-82385200	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr4:82375000-82385400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr4:82375000-82386600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr4:82375200-82388400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr4:82375400-82386000	Weak transcription	Stomach Smooth Muscle	stomach
21	chr4:82375800-82386800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr4:82377000-82384800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr4:82377000-82386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:82377000-82388000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr4:82377200-82385000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
26	chr4:82377200-82389000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr4:82377400-82386400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr4:82377600-82383600	Strong transcription	Primary B cells from cord blood	blood
29	chr4:82377800-82390800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr4:82377800-82391000	Weak transcription	Dnd41	blood
31	chr4:82378200-82390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
32	chr4:82378600-82390800	Weak transcription	Fetal Stomach	stomach
33	chr4:82378800-82388400	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr4:82379000-82391400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:82379200-82384200	Enhancers	Brain Hippocampus Middle	brain
36	chr4:82379800-82388400	Weak transcription	Fetal Lung	lung
37	chr4:82380400-82388400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr4:82380600-82388400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr4:82380600-82388800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:82380600-82391000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr4:82380600-82391200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:82380600-82391200	Weak transcription	Placenta	Placenta
43	chr4:82380800-82385200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr4:82380800-82385800	Enhancers	Brain Substantia Nigra	brain
45	chr4:82380800-82387000	Enhancers	Small Intestine	intestine
46	chr4:82380800-82387600	Enhancers	Brain Angular Gyrus	brain
47	chr4:82380800-82388400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr4:82381000-82386800	Enhancers	Brain Anterior Caudate	brain
49	chr4:82381400-82383600	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr4:82381400-82384000	Genic enhancers	Primary B cells from peripheral blood	blood

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