Variant report

Variant	rs6819592
Chromosome Location	chr4:48129112-48129113
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48126444..48129748-chr4:48269948..48273540,4	MCF-7	breast:
2	chr4:48127393..48130014-chr4:48270047..48272078,2	MCF-7	breast:
3	chr4:48128237..48129739-chr4:48292379..48294258,2	K562	blood:
4	chr4:48123791..48126043-chr4:48128232..48130518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10027991	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10938524	0.83[ASN][1000 genomes]
rs11944549	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12332001	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12512766	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1507919	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16860999	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2089510	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2243840	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2464502	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2661529	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2661533	0.82[EUR][1000 genomes]
rs2661543	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2661544	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2661547	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2661548	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2704399	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2704426	0.97[ASN][1000 genomes]
rs2704433	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2704435	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2704436	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2704439	0.82[EUR][1000 genomes]
rs3805184	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4695341	0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs6447616	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6814443	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7659164	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7678246	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7689953	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs882715	0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6819592	TXK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48106000-48129400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:48118400-48129600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr4:48121600-48129400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr4:48122600-48129400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr4:48122800-48129400	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr4:48123000-48137600	Weak transcription	Gastric	stomach
7	chr4:48124000-48129600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr4:48124200-48129800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr4:48124800-48129400	Genic enhancers	Primary T cells from cord blood	blood
10	chr4:48125000-48129200	Weak transcription	Fetal Heart	heart
11	chr4:48125200-48129200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr4:48125600-48129600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr4:48126200-48129400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr4:48126400-48129400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr4:48126600-48133400	Enhancers	K562	blood
16	chr4:48127400-48129600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:48127600-48129200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:48127800-48129200	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr4:48128600-48129200	Enhancers	Hela-S3	cervix
20	chr4:48128600-48129800	Enhancers	Placenta	Placenta
21	chr4:48128800-48129200	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr4:48128800-48129200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr4:48128800-48129200	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr4:48128800-48129400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr4:48128800-48129400	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr4:48128800-48129400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr4:48128800-48129400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr4:48128800-48129400	Enhancers	HSMMtube	muscle
29	chr4:48128800-48129600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr4:48128800-48129600	Enhancers	HSMM	muscle
31	chr4:48128800-48130400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr4:48128800-48130400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr4:48128800-48132000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr4:48129000-48129200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr4:48129000-48129600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr4:48129000-48129600	Enhancers	Fetal Lung	lung
37	chr4:48129000-48129600	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr4:48129000-48129600	Enhancers	HUVEC	blood vessel
39	chr4:48129000-48129800	Enhancers	H9 Cell Line	embryonic stem cell
40	chr4:48129000-48129800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:48129000-48129800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:48129000-48130400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr4:48129000-48130400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr4:48129000-48132400	Enhancers	Breast Myoepithelial Primary Cells	Breast

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