Variant report

Variant	rs73441957
Chromosome Location	chr6:45412105-45412106
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45334941..45336604-chr6:45412002..45413719,2	K562	blood:
2	chr6:45411583..45414532-chr6:45553284..45556066,2	MCF-7	breast:
3	chr6:45409035..45411043-chr6:45411792..45413843,2	MCF-7	breast:
4	chr6:45387748..45391708-chr6:45411160..45414695,4	MCF-7	breast:
5	chr6:45403577..45407385-chr6:45411377..45414376,7	K562	blood:
6	chr6:45410613..45412581-chr6:45419740..45423664,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271857	Chromatin interaction
ENSG00000124813	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12665622	0.92[ASN][1000 genomes]
rs6905689	0.96[ASN][1000 genomes]
rs73448153	0.96[ASN][1000 genomes]
rs73448156	0.93[ASN][1000 genomes]
rs73448159	0.92[ASN][1000 genomes]
rs7751050	0.95[AMR][1000 genomes];0.93[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	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45394400-45413200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:45399400-45423600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr6:45402000-45413200	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr6:45403800-45413200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr6:45405000-45413000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr6:45405000-45413200	Weak transcription	Brain Anterior Caudate	brain
7	chr6:45405200-45417200	Weak transcription	Spleen	Spleen
8	chr6:45405400-45413400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:45405600-45412200	Weak transcription	Primary B cells from cord blood	blood
10	chr6:45405600-45412400	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:45405600-45413200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:45405600-45413200	Weak transcription	Brain Substantia Nigra	brain
13	chr6:45405600-45413400	Weak transcription	Brain Angular Gyrus	brain
14	chr6:45405600-45413800	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:45405600-45417400	Genic enhancers	Dnd41	blood
16	chr6:45406600-45412200	Weak transcription	Fetal Intestine Small	intestine
17	chr6:45407000-45413200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr6:45407000-45413400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr6:45407200-45413000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr6:45407200-45413000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr6:45407200-45413200	Weak transcription	Fetal Kidney	kidney
22	chr6:45407200-45413200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr6:45407200-45413800	Weak transcription	Aorta	Aorta
24	chr6:45407200-45418200	Weak transcription	Gastric	stomach
25	chr6:45407200-45462000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:45407400-45413000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr6:45407400-45413600	Weak transcription	Primary T cells from cord blood	blood
28	chr6:45407800-45413200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr6:45407800-45413200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr6:45408000-45412400	Weak transcription	HMEC	breast
31	chr6:45409000-45412200	Weak transcription	NH-A	brain
32	chr6:45409200-45413400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr6:45409800-45413000	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr6:45410200-45412200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:45410200-45412200	Weak transcription	Fetal Lung	lung
36	chr6:45410200-45412600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr6:45410400-45412200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:45410400-45412200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:45410400-45412400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:45410400-45413400	Enhancers	NHDF-Ad	bronchial
41	chr6:45410600-45412400	Strong transcription	Osteobl	bone
42	chr6:45410600-45414000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
43	chr6:45411000-45412200	Enhancers	Primary hematopoietic stem cells	blood
44	chr6:45411000-45412600	Genic enhancers	NHLF	lung
45	chr6:45411000-45412800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:45411000-45413200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr6:45411000-45413600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:45411200-45414000	Enhancers	Fetal Thymus	thymus
49	chr6:45411200-45416200	Weak transcription	Lung	lung
50	chr6:45411400-45412400	Weak transcription	Primary T helper cells PMA-I stimulated	--

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