Variant report

Variant	rs73738714
Chromosome Location	chr6:27248409-27248410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:27217218..27219309-chr6:27247377..27248897,2	K562	blood:
2	chr6:27203220..27205939-chr6:27245296..27248944,5	K562	blood:
3	chr6:27246057..27248417-chr6:27262936..27265446,2	MCF-7	breast:
4	chr6:27202802..27205636-chr6:27246312..27248576,2	K562	blood:
5	chr6:27218331..27220878-chr6:27246243..27248921,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112812	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs16895205	1.00[EUR][1000 genomes]
rs16899633	1.00[EUR][1000 genomes]
rs16899664	1.00[EUR][1000 genomes]
rs16899778	1.00[EUR][1000 genomes]
rs16899794	1.00[EUR][1000 genomes]
rs16899861	1.00[EUR][1000 genomes]
rs5030966	1.00[EUR][1000 genomes]
rs56141585	1.00[EUR][1000 genomes]
rs56773753	1.00[EUR][1000 genomes]
rs56980568	1.00[EUR][1000 genomes]
rs56982870	1.00[EUR][1000 genomes]
rs57123722	1.00[EUR][1000 genomes]
rs57349601	1.00[EUR][1000 genomes]
rs57509377	1.00[EUR][1000 genomes]
rs58669069	1.00[EUR][1000 genomes]
rs58685987	1.00[EUR][1000 genomes]
rs58942357	1.00[EUR][1000 genomes]
rs59659183	1.00[EUR][1000 genomes]
rs59813908	1.00[EUR][1000 genomes]
rs59886985	1.00[EUR][1000 genomes]
rs61137579	1.00[EUR][1000 genomes]
rs61206558	1.00[EUR][1000 genomes]
rs61482673	1.00[EUR][1000 genomes]
rs61483696	1.00[EUR][1000 genomes]
rs61742445	1.00[EUR][1000 genomes]
rs73738743	1.00[EUR][1000 genomes]
rs73738764	1.00[EUR][1000 genomes]
rs73738772	1.00[EUR][1000 genomes]
rs73738775	1.00[EUR][1000 genomes]
rs73738795	1.00[EUR][1000 genomes]
rs73738796	1.00[EUR][1000 genomes]
rs73738798	1.00[EUR][1000 genomes]
rs73738799	1.00[EUR][1000 genomes]
rs73738802	1.00[EUR][1000 genomes]
rs73739596	1.00[EUR][1000 genomes]
rs73739597	1.00[EUR][1000 genomes]
rs73740430	1.00[EUR][1000 genomes]
rs73741704	1.00[EUR][1000 genomes]
rs73741705	1.00[EUR][1000 genomes]
rs73741706	1.00[EUR][1000 genomes]
rs73741716	1.00[EUR][1000 genomes]
rs766093	1.00[EUR][1000 genomes]
rs7744655	1.00[EUR][1000 genomes]
rs7750919	1.00[EUR][1000 genomes]
rs7751102	1.00[EUR][1000 genomes]
rs7758568	1.00[EUR][1000 genomes]
rs7765353	1.00[EUR][1000 genomes]
rs7768826	1.00[EUR][1000 genomes]
rs7773166	1.00[EUR][1000 genomes]
rs7775305	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948921	chr6:26556890-27443957	Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	472 gene(s)	inside rSNPs	diseases
2	nsv1017328	chr6:27177147-27369588	Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
3	nsv883505	chr6:27210614-27300580	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:27247000-27249400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr6:27247000-27249400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr6:27247200-27248600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr6:27247200-27249000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr6:27247200-27249200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr6:27247200-27249200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:27247200-27249400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:27247200-27249400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr6:27247200-27249400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:27247200-27249400	Active TSS	A549	lung
11	chr6:27247200-27249400	Active TSS	Hela-S3	cervix
12	chr6:27247400-27248600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr6:27247400-27248600	Bivalent Enhancer	Brain Germinal Matrix	brain
14	chr6:27247400-27248600	Bivalent Enhancer	Fetal Muscle Leg	muscle
15	chr6:27247400-27248600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
16	chr6:27247400-27248800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:27247400-27248800	Active TSS	HSMMtube	muscle
18	chr6:27247400-27249200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
19	chr6:27247400-27249200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr6:27247400-27249400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:27247600-27248600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr6:27247600-27248800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:27247600-27248800	Active TSS	NHEK	skin
24	chr6:27247600-27249000	Active TSS	NHDF-Ad	bronchial
25	chr6:27247600-27249000	Flanking Active TSS	Osteobl	bone
26	chr6:27247600-27249200	Active TSS	H1 Cell Line	embryonic stem cell
27	chr6:27247600-27249200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:27247600-27249200	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr6:27247600-27249200	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr6:27247600-27249200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr6:27247600-27249400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr6:27247600-27249400	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr6:27247600-27249400	Active TSS	GM12878-XiMat	blood
34	chr6:27247600-27249400	Active TSS	K562	blood
35	chr6:27247800-27248600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:27247800-27248600	Active TSS	HSMM	muscle
37	chr6:27247800-27248800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:27247800-27248800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr6:27247800-27249000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr6:27247800-27249400	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr6:27248000-27248600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr6:27248000-27248600	Active TSS	Muscle Satellite Cultured Cells	--
43	chr6:27248000-27248600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr6:27248000-27248600	Bivalent Enhancer	Fetal Intestine Large	intestine
45	chr6:27248000-27248600	Bivalent Enhancer	Fetal Stomach	stomach
46	chr6:27248000-27248600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
47	chr6:27248000-27248800	Active TSS	NH-A	brain
48	chr6:27248000-27249000	Active TSS	HepG2	liver
49	chr6:27248000-27249000	Active TSS	HMEC	breast
50	chr6:27248000-27249200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood

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