Variant report

Variant	rs41302543
Chromosome Location	chr1:193181434-193181435
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	chr1:193073492..193075209-chr1:193180623..193182393,2	K562	blood:
2	chr1:193172847..193175816-chr1:193181205..193182929,2	K562	blood:

Variant related genes	Relation type
ENSG00000023572	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12405438	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12405461	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12411221	0.88[AMR][1000 genomes]
rs72722414	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72740234	1.00[AMR][1000 genomes];1.00[EUR][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	nsv832148	chr1:193143945-193292897	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv872831	chr1:193152317-193322087	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193155800-193183000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:193155800-193243400	Weak transcription	Pancreas	Pancrea
3	chr1:193156200-193216800	Weak transcription	Aorta	Aorta
4	chr1:193159000-193210000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr1:193159800-193185000	Weak transcription	Fetal Brain Male	brain
6	chr1:193162000-193186200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr1:193162000-193186200	Weak transcription	Placenta	Placenta
8	chr1:193162200-193183000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:193162200-193186200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:193162400-193186000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr1:193167800-193210400	Weak transcription	Ovary	ovary
12	chr1:193168000-193228400	Weak transcription	Stomach Mucosa	stomach
13	chr1:193168800-193184800	Weak transcription	Fetal Stomach	stomach
14	chr1:193169000-193190800	Weak transcription	Brain Anterior Caudate	brain
15	chr1:193169400-193186400	Weak transcription	Left Ventricle	heart
16	chr1:193170000-193186200	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr1:193170200-193191200	Weak transcription	Rectal Smooth Muscle	rectum
18	chr1:193170400-193216000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr1:193172600-193185600	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:193172800-193186200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr1:193173400-193186400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:193174000-193183000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:193174800-193186000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:193175600-193182600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr1:193175600-193183000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr1:193175800-193185600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr1:193176200-193182000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:193176600-193181600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:193176600-193182600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:193176600-193183000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:193176600-193185800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr1:193176800-193181600	Weak transcription	Fetal Thymus	thymus
33	chr1:193176800-193182000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:193176800-193182800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:193176800-193182800	Weak transcription	Liver	Liver
36	chr1:193176800-193183000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr1:193176800-193183000	Weak transcription	Thymus	Thymus
38	chr1:193176800-193184800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr1:193176800-193185000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:193176800-193185400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr1:193176800-193203800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr1:193176800-193209200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr1:193177000-193181600	Weak transcription	Adipose Nuclei	Adipose
44	chr1:193177000-193206600	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr1:193177400-193182200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:193178000-193182400	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:193178000-193182800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:193178000-193182800	Weak transcription	Fetal Muscle Leg	muscle
49	chr1:193178400-193181600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr1:193178400-193182600	Weak transcription	Fetal Kidney	kidney

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