Variant report

Variant	rs73780513
Chromosome Location	chr6:144627146-144627147
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144622689..144625312-chr6:144626270..144628282,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17073627	0.90[ASN][1000 genomes]
rs4358641	0.95[ASN][1000 genomes]
rs73585075	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73585086	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73585097	1.00[ASN][1000 genomes]
rs73586980	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73586986	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830831	chr6:144501371-144649509	Bivalent/Poised TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv830832	chr6:144572378-144759023	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422260	chr6:144574591-144731630	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv1031253	chr6:144599055-144883013	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv538461	chr6:144599055-144883013	Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144608600-144629800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:144608600-144631400	Weak transcription	Colonic Mucosa	Colon
3	chr6:144609200-144641600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr6:144609600-144628800	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr6:144609600-144629000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr6:144609600-144629800	Weak transcription	Stomach Smooth Muscle	stomach
7	chr6:144615400-144630200	Weak transcription	Hela-S3	cervix
8	chr6:144616400-144648000	Weak transcription	NHEK	skin
9	chr6:144617200-144629400	Weak transcription	Placenta	Placenta
10	chr6:144617200-144636400	Weak transcription	A549	lung
11	chr6:144617400-144628600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr6:144617400-144628800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr6:144617400-144629000	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:144617400-144630200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:144617400-144632800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr6:144617600-144629000	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr6:144617600-144629800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:144617800-144629800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr6:144618200-144628600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr6:144618200-144629400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr6:144618200-144629800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr6:144618200-144630200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:144618200-144630200	Weak transcription	HUVEC	blood vessel
24	chr6:144618400-144628800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr6:144618400-144630000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:144619200-144629400	Weak transcription	Fetal Lung	lung
27	chr6:144619200-144634600	Weak transcription	Colon Smooth Muscle	Colon
28	chr6:144619600-144627200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr6:144619600-144629800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
30	chr6:144619600-144629800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:144619600-144630000	Weak transcription	NHDF-Ad	bronchial
32	chr6:144619800-144629000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr6:144619800-144629400	Weak transcription	Fetal Intestine Small	intestine
34	chr6:144619800-144629600	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr6:144619800-144631800	Weak transcription	Fetal Heart	heart
36	chr6:144619800-144634600	Weak transcription	Brain Hippocampus Middle	brain
37	chr6:144620000-144629600	Weak transcription	Dnd41	blood
38	chr6:144620200-144628800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:144620400-144629800	Weak transcription	Fetal Intestine Large	intestine
40	chr6:144620800-144628600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:144622400-144637000	Genic enhancers	HepG2	liver
42	chr6:144622600-144628800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr6:144623400-144629200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr6:144623400-144629600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:144623400-144629600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:144623600-144628600	Weak transcription	Fetal Muscle Leg	muscle
47	chr6:144623600-144629000	Weak transcription	Fetal Stomach	stomach
48	chr6:144624200-144628600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr6:144624200-144629200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr6:144624200-144632000	Weak transcription	H9 Cell Line	embryonic stem cell

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