Variant report

Variant	rs41270044
Chromosome Location	chr6:34985563-34985564
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:34981452..34983492-chr6:34985048..34986819,2	K562	blood:
2	chr6:34960537..34962092-chr6:34983517..34986049,2	K562	blood:
3	chr6:34976217..34981550-chr6:34982184..34986897,6	K562	blood:
4	chr6:34976709..34980316-chr6:34984375..34986897,3	K562	blood:
5	chr6:34981992..34984484-chr6:34985319..34987073,2	K562	blood:
6	chr6:34984374..34990603-chr6:34991816..34996687,6	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13193526	0.81[ASN][1000 genomes]
rs13196367	0.97[ASN][1000 genomes]
rs13207848	0.89[ASN][1000 genomes]
rs13215208	0.84[ASN][1000 genomes]
rs2177380	0.97[ASN][1000 genomes]
rs35285054	0.81[ASN][1000 genomes]
rs35576171	0.92[ASN][1000 genomes]
rs57844307	0.97[ASN][1000 genomes]
rs67388064	0.86[ASN][1000 genomes]
rs72896231	0.95[ASN][1000 genomes]
rs843937	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022844	chr6:34317219-35060519	Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv538195	chr6:34317219-35060519	Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:34926800-34992200	Weak transcription	Small Intestine	intestine
2	chr6:34939400-35016000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:34960200-34988200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:34963000-34985600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:34963000-34985600	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr6:34963000-34985600	Weak transcription	NHEK	skin
7	chr6:34963000-34987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:34963000-34989400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:34963600-34990000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:34963600-35006600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr6:34967200-34985600	Weak transcription	Primary B cells from cord blood	blood
12	chr6:34971000-34988400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr6:34978400-34985600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr6:34979800-34990800	Weak transcription	K562	blood
15	chr6:34979800-35002000	Weak transcription	GM12878-XiMat	blood
16	chr6:34981600-34985600	Enhancers	Brain Cingulate Gyrus	brain
17	chr6:34982000-34985600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:34982800-34985600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:34982800-34991800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr6:34982800-34992200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr6:34983000-34991800	Weak transcription	HMEC	breast
22	chr6:34983400-34987800	Enhancers	Fetal Heart	heart
23	chr6:34983600-34992000	Weak transcription	A549	lung
24	chr6:34983800-34985600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:34983800-34985600	Flanking Active TSS	Fetal Lung	lung
26	chr6:34983800-34985800	Enhancers	NH-A	brain
27	chr6:34983800-34992200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr6:34984200-34987200	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr6:34984400-34986000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:34984400-34986000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:34984400-34986000	Flanking Active TSS	NHLF	lung
32	chr6:34984400-34986600	Active TSS	Colon Smooth Muscle	Colon
33	chr6:34984400-34987200	Flanking Active TSS	HUVEC	blood vessel
34	chr6:34984400-34987400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr6:34984600-34985600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr6:34984600-34985600	Active TSS	Right Atrium	heart
37	chr6:34984600-34986000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr6:34984600-34986000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr6:34984600-34986200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr6:34984600-34986200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr6:34984600-34986200	Flanking Active TSS	HSMM	muscle
42	chr6:34984600-34987600	Active TSS	Aorta	Aorta
43	chr6:34984600-34988200	Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr6:34984800-34985600	Active TSS	Stomach Smooth Muscle	stomach
45	chr6:34984800-34985800	Flanking Active TSS	NHDF-Ad	bronchial
46	chr6:34984800-34986000	Flanking Active TSS	Fetal Muscle Leg	muscle
47	chr6:34984800-34987000	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr6:34984800-34987000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr6:34984800-34987200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr6:34984800-34987800	Active TSS	Rectal Smooth Muscle	rectum

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