Variant report

Variant	rs6814443
Chromosome Location	chr4:48128850-48128851
allele	G/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	chr4:48123606..48125834-chr4:48126808..48128865,2	K562	blood:
5	chr4:48123791..48126043-chr4:48128232..48130518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10027991	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10805164	1.00[JPT][hapmap]
rs10805165	1.00[JPT][hapmap]
rs10938524	0.85[ASN][1000 genomes]
rs11944549	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11945978	1.00[JPT][hapmap]
rs12332001	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12499541	1.00[JPT][hapmap]
rs12512766	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13104849	1.00[JPT][hapmap]
rs1466994	1.00[JPT][hapmap]
rs1507919	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860999	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1961975	1.00[JPT][hapmap]
rs2089509	1.00[JPT][hapmap]
rs2089510	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2089511	1.00[JPT][hapmap]
rs2243840	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2271173	1.00[JPT][hapmap]
rs2464502	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661529	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661533	0.82[EUR][1000 genomes]
rs2661543	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661544	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661547	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661548	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704399	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704426	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2704433	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704435	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704436	0.82[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704439	0.83[EUR][1000 genomes]
rs3792620	1.00[JPT][hapmap]
rs3792621	1.00[JPT][hapmap]
rs3792622	1.00[JPT][hapmap]
rs3805179	1.00[JPT][hapmap]
rs3805184	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695340	1.00[JPT][hapmap]
rs4695341	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4695344	1.00[JPT][hapmap]
rs6447616	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819592	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6845941	1.00[JPT][hapmap]
rs7659164	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678246	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7689953	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs882715	0.84[EUR][1000 genomes];1.00[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
rs6814443	TXK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:38 , 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	chr4:48118800-48129000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr4:48121600-48129400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr4:48122600-48129400	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr4:48122800-48129400	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr4:48123000-48137600	Weak transcription	Gastric	stomach
8	chr4:48124000-48129600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr4:48124200-48129800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr4:48124800-48129400	Genic enhancers	Primary T cells from cord blood	blood
11	chr4:48125000-48129200	Weak transcription	Fetal Heart	heart
12	chr4:48125200-48129200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr4:48125600-48129600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr4:48126200-48129400	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr4:48126400-48129400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:48126600-48133400	Enhancers	K562	blood
17	chr4:48127400-48129000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr4:48127400-48129600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr4:48127600-48129200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr4:48127800-48129000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr4:48127800-48129200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr4:48128200-48129000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr4:48128600-48129200	Enhancers	Hela-S3	cervix
24	chr4:48128600-48129800	Enhancers	Placenta	Placenta
25	chr4:48128800-48129000	Enhancers	iPS-20b Cell Line	embryonic stem cell
26	chr4:48128800-48129200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:48128800-48129200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr4:48128800-48129200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr4:48128800-48129400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr4:48128800-48129400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr4:48128800-48129400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr4:48128800-48129400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr4:48128800-48129400	Enhancers	HSMMtube	muscle
34	chr4:48128800-48129600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr4:48128800-48129600	Enhancers	HSMM	muscle
36	chr4:48128800-48130400	Enhancers	H1 Cell Line	embryonic stem cell
37	chr4:48128800-48130400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:48128800-48132000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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