Variant report

Variant	rs28362044
Chromosome Location	chr6:144788543-144788544
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144787813..144789808-chr6:144792898..144795069,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10428720	1.00[EUR][1000 genomes]
rs10457762	1.00[EUR][1000 genomes]
rs12192454	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12193726	0.86[EUR][1000 genomes]
rs12196635	0.83[AMR][1000 genomes]
rs12200994	1.00[AMR][1000 genomes]
rs12204844	1.00[EUR][1000 genomes]
rs12205085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12205552	1.00[EUR][1000 genomes]
rs12206968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12207034	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12208806	1.00[AMR][1000 genomes]
rs12210449	1.00[AMR][1000 genomes]
rs12210566	1.00[AMR][1000 genomes]
rs12211195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12212215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12212750	1.00[AMR][1000 genomes]
rs12215350	1.00[EUR][1000 genomes]
rs12215997	0.87[EUR][1000 genomes]
rs12216212	1.00[AMR][1000 genomes]
rs28733692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6923012	1.00[EUR][1000 genomes]
rs7749416	1.00[EUR][1000 genomes]
rs9484883	1.00[EUR][1000 genomes]
rs9484885	1.00[EUR][1000 genomes]
rs9496992	1.00[EUR][1000 genomes]
rs9496993	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1023014	chr6:144717963-144806691	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv886739	chr6:144719765-144796516	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28362044	SF1	trans	lymphoblastoid	RTeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144741000-144801800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:144756000-144810600	Weak transcription	Small Intestine	intestine
3	chr6:144762800-144790800	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr6:144762800-144791400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr6:144763000-144790800	Strong transcription	Primary B cells from cord blood	blood
6	chr6:144763000-144813800	Weak transcription	Brain Anterior Caudate	brain
7	chr6:144763200-144790800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr6:144763200-144793600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:144764000-144790200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:144764400-144838800	Weak transcription	A549	lung
11	chr6:144771400-144815800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr6:144771800-144811800	Weak transcription	Stomach Mucosa	stomach
13	chr6:144774600-144790800	Strong transcription	Primary B cells from peripheral blood	blood
14	chr6:144778600-144813800	Weak transcription	Hela-S3	cervix
15	chr6:144779200-144790800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr6:144780000-144789200	Strong transcription	Adipose Nuclei	Adipose
17	chr6:144780600-144794800	Weak transcription	NHDF-Ad	bronchial
18	chr6:144781000-144791200	Weak transcription	Fetal Intestine Small	intestine
19	chr6:144781000-144801000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:144781600-144791400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr6:144781800-144806600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:144782000-144788600	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr6:144782000-144788600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr6:144782000-144790400	Strong transcription	HepG2	liver
25	chr6:144782000-144799600	Weak transcription	Psoas Muscle	Psoas
26	chr6:144782000-144806600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr6:144782000-144806600	Weak transcription	Brain Substantia Nigra	brain
28	chr6:144782000-144806600	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:144782000-144806600	Weak transcription	Spleen	Spleen
30	chr6:144782000-144809800	Weak transcription	Gastric	stomach
31	chr6:144782200-144789200	Weak transcription	Thymus	Thymus
32	chr6:144782200-144793600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr6:144782200-144806600	Weak transcription	Colonic Mucosa	Colon
34	chr6:144782400-144801200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr6:144782800-144801000	Weak transcription	NH-A	brain
36	chr6:144783200-144795800	Weak transcription	Aorta	Aorta
37	chr6:144783400-144798800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr6:144783600-144794800	Weak transcription	Stomach Smooth Muscle	stomach
39	chr6:144783800-144802800	Weak transcription	NHLF	lung
40	chr6:144784200-144789800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr6:144784600-144788600	Weak transcription	HSMMtube	muscle
42	chr6:144784600-144789200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
43	chr6:144784600-144796000	Weak transcription	Fetal Kidney	kidney
44	chr6:144784600-144812000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:144784800-144788600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:144784800-144792800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr6:144784800-144795400	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:144784800-144795600	Weak transcription	Placenta	Placenta
49	chr6:144785000-144789000	Weak transcription	Osteobl	bone
50	chr6:144785000-144801000	Weak transcription	Right Ventricle	heart

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