Variant report

Variant	rs28534820
Chromosome Location	chr7:138205119-138205120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:138197875..138199870-chr7:138203634..138206200,2	K562	blood:
2	chr7:138199117..138202259-chr7:138204807..138207415,3	MCF-7	breast:
3	chr7:138151113..138152904-chr7:138203143..138205959,2	K562	blood:

Variant related genes	Relation type
ENSG00000122779	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10216085	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224459	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10224559	0.94[AFR][1000 genomes]
rs10226487	0.94[AFR][1000 genomes]
rs10231698	0.94[AFR][1000 genomes]
rs10232597	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234810	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10236859	0.94[AFR][1000 genomes]
rs10237069	0.94[AFR][1000 genomes]
rs10237544	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10237720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239129	0.88[AFR][1000 genomes]
rs10239202	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10239932	0.94[AFR][1000 genomes]
rs10241288	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10241942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10242105	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10243069	0.94[AFR][1000 genomes]
rs10245088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10248604	0.94[AFR][1000 genomes]
rs10253989	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10254440	0.94[AFR][1000 genomes]
rs10254935	0.91[AFR][1000 genomes]
rs10256094	0.94[AFR][1000 genomes]
rs10256358	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10256619	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10259673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261236	0.82[AFR][1000 genomes]
rs10267577	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268912	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10272478	0.94[AFR][1000 genomes]
rs10277465	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10278741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10281429	0.82[AFR][1000 genomes]
rs10281487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1073255	0.94[AFR][1000 genomes]
rs13438570	0.94[AFR][1000 genomes]
rs28361932	0.82[AFR][1000 genomes]
rs28380017	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28392567	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28407067	0.94[AFR][1000 genomes]
rs28498774	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28502705	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28584756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28598597	0.94[AFR][1000 genomes]
rs28608602	0.94[AFR][1000 genomes]
rs28673291	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28688534	0.94[AFR][1000 genomes]
rs28694658	0.94[AFR][1000 genomes]
rs28706910	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707292	0.94[AFR][1000 genomes]
rs28714460	0.82[AFR][1000 genomes]
rs28729263	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28762120	0.91[AFR][1000 genomes]
rs28764878	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28816768	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28822161	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2883144	1.00[AMR][1000 genomes]
rs3847123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3847124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4329204	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6947993	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34048	chr7:137724092-138213119	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv831153	chr7:138078179-138265648	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv1030956	chr7:138163169-138579519	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:138177000-138212600	Weak transcription	Pancreas	Pancrea
2	chr7:138178600-138212200	Weak transcription	NHLF	lung
3	chr7:138186600-138210400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr7:138188400-138209800	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr7:138188800-138210400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
6	chr7:138188800-138210600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:138190200-138212200	Weak transcription	HMEC	breast
8	chr7:138192000-138212200	Weak transcription	Stomach Mucosa	stomach
9	chr7:138192200-138207400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr7:138194000-138212000	Weak transcription	NHDF-Ad	bronchial
11	chr7:138195200-138205600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:138195200-138212200	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:138196800-138209400	Strong transcription	Dnd41	blood
14	chr7:138197000-138216000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:138197400-138208800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:138197400-138210600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr7:138197400-138212600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:138197600-138207400	Strong transcription	Fetal Thymus	thymus
19	chr7:138197600-138208400	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr7:138197600-138208600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:138197600-138209400	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:138197600-138210400	Weak transcription	A549	lung
23	chr7:138197600-138211800	Weak transcription	Fetal Brain Male	brain
24	chr7:138197600-138212600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr7:138198000-138210800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:138198000-138212200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr7:138198800-138205600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:138199000-138206800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr7:138199200-138205200	Weak transcription	Osteobl	bone
30	chr7:138199200-138208600	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr7:138199200-138212200	Weak transcription	Brain Anterior Caudate	brain
32	chr7:138199400-138210400	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr7:138199400-138212400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr7:138199800-138209000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr7:138200000-138207200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
36	chr7:138200000-138207200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:138200000-138210400	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr7:138200200-138206800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:138200200-138206800	Strong transcription	HepG2	liver
40	chr7:138200200-138210400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:138200200-138210600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr7:138200400-138209400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr7:138200600-138205800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr7:138200600-138208200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:138200800-138205600	Strong transcription	Fetal Stomach	stomach
46	chr7:138200800-138206800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr7:138201000-138205400	Strong transcription	Fetal Muscle Leg	muscle
48	chr7:138201000-138205600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr7:138201000-138207000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr7:138201000-138207000	Strong transcription	H9 Cell Line	embryonic stem cell

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