Variant report

Variant	rs6819804
Chromosome Location	chr4:48129224-48129225
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	chr4:48123791..48126043-chr4:48128232..48130518,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10016563	0.99[EUR][1000 genomes]
rs10021919	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10033663	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12331972	0.80[EUR][1000 genomes]
rs16861044	0.92[ASN][1000 genomes]
rs17470919	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17471024	0.87[EUR][1000 genomes]
rs17574399	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2456928	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2661532	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2661535	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28408546	0.86[ASN][1000 genomes]
rs28538414	0.86[ASN][1000 genomes]
rs28702422	0.86[EUR][1000 genomes]
rs3749503	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3792619	0.88[ASN][1000 genomes]
rs55683170	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55809586	0.98[EUR][1000 genomes]
rs6814046	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6837324	0.83[EUR][1000 genomes]
rs73244489	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7654182	0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7682890	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7684558	0.82[EUR][1000 genomes]
rs955692	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs996223	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9991974	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[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
rs6819804	TEC	cis	lung	GTEx

Chromatin state (count:66 , 50 per page) page: 1 2

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	chr4:48125600-48129600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
11	chr4:48126200-48129400	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr4:48126400-48129400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:48126600-48133400	Enhancers	K562	blood
14	chr4:48127400-48129600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:48128600-48129800	Enhancers	Placenta	Placenta
16	chr4:48128800-48129400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr4:48128800-48129400	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr4:48128800-48129400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr4:48128800-48129400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr4:48128800-48129400	Enhancers	HSMMtube	muscle
21	chr4:48128800-48129600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr4:48128800-48129600	Enhancers	HSMM	muscle
23	chr4:48128800-48130400	Enhancers	H1 Cell Line	embryonic stem cell
24	chr4:48128800-48130400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr4:48128800-48132000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
26	chr4:48129000-48129600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr4:48129000-48129600	Enhancers	Fetal Lung	lung
28	chr4:48129000-48129600	Enhancers	Rectal Mucosa Donor 29	rectum
29	chr4:48129000-48129600	Enhancers	HUVEC	blood vessel
30	chr4:48129000-48129800	Enhancers	H9 Cell Line	embryonic stem cell
31	chr4:48129000-48129800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:48129000-48129800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
33	chr4:48129000-48130400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr4:48129000-48130400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr4:48129000-48132400	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr4:48129200-48129600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr4:48129200-48129600	Enhancers	Muscle Satellite Cultured Cells	--
38	chr4:48129200-48129600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:48129200-48129600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr4:48129200-48129600	Enhancers	Rectal Smooth Muscle	rectum
41	chr4:48129200-48129600	Enhancers	A549	lung
42	chr4:48129200-48129600	Enhancers	NH-A	brain
43	chr4:48129200-48129800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:48129200-48129800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:48129200-48129800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:48129200-48129800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr4:48129200-48129800	Flanking Active TSS	Hela-S3	cervix
48	chr4:48129200-48129800	Enhancers	NHDF-Ad	bronchial
49	chr4:48129200-48130000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr4:48129200-48130000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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