Variant report

Variant	rs1468800
Chromosome Location	chr7:12252143-12252144
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12251263..12253237-chr7:12442665..12444579,2	K562	blood:
2	chr7:12123423..12125399-chr7:12251986..12253800,2	K562	blood:

Variant related genes	Relation type
ENSG00000146530	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10488193	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11980425	0.82[ASN][1000 genomes]
rs12699320	0.91[ASN][1000 genomes]
rs16877361	0.80[EUR][1000 genomes]
rs17165736	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165737	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165744	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165746	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17165750	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17595150	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17595402	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17605315	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17665337	0.81[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs60495893	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs60699002	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61225336	0.86[EUR][1000 genomes]
rs6978684	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73284389	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73299019	1.00[ASN][1000 genomes]
rs73299040	0.87[EUR][1000 genomes]
rs73301035	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73677511	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73677523	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73677558	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73678692	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12249800-12252200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:12249800-12252200	Active TSS	Right Atrium	heart
3	chr7:12249800-12253000	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:12250000-12252200	Active TSS	A549	lung
5	chr7:12250000-12252400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr7:12250200-12252200	Active TSS	Fetal Kidney	kidney
7	chr7:12250400-12252200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:12250400-12252200	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr7:12250600-12252800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:12251000-12252200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
11	chr7:12251000-12252200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:12251000-12252400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
13	chr7:12251000-12252600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:12251200-12252200	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr7:12251200-12252200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:12251400-12252200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr7:12251400-12252200	Flanking Active TSS	Fetal Brain Female	brain
18	chr7:12251400-12252200	Flanking Active TSS	HUVEC	blood vessel
19	chr7:12251600-12252200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:12251600-12252200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:12251600-12252200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr7:12251600-12252200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr7:12251600-12252200	Flanking Active TSS	Duodenum Mucosa	Duodenum
24	chr7:12251600-12252200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr7:12251600-12252200	Flanking Active TSS	Fetal Intestine Small	intestine
26	chr7:12251600-12252200	Flanking Active TSS	Fetal Lung	lung
27	chr7:12251600-12252200	Flanking Active TSS	Fetal Stomach	stomach
28	chr7:12251600-12252200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
29	chr7:12251600-12252200	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:12251600-12252200	Flanking Active TSS	NH-A	brain
31	chr7:12251600-12252400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:12251600-12252400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr7:12251600-12252400	Flanking Active TSS	Liver	Liver
34	chr7:12251600-12252400	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr7:12251600-12252400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr7:12251600-12252400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr7:12251600-12252400	Enhancers	Placenta Amnion	Placenta Amnion
38	chr7:12251600-12252400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
39	chr7:12251600-12252400	Flanking Active TSS	Hela-S3	cervix
40	chr7:12251600-12252400	Flanking Active TSS	NHEK	skin
41	chr7:12251600-12252600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr7:12251600-12252600	Flanking Active TSS	Primary T cells from cord blood	blood
43	chr7:12251600-12252600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr7:12251800-12252200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr7:12251800-12252200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr7:12251800-12252200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr7:12251800-12252200	Flanking Active TSS	Fetal Brain Male	brain
48	chr7:12251800-12252200	Flanking Active TSS	Fetal Intestine Large	intestine
49	chr7:12251800-12252200	Flanking Active TSS	Rectal Smooth Muscle	rectum
50	chr7:12251800-12252200	Flanking Active TSS	HepG2	liver

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