Variant report

Variant	rs73098900
Chromosome Location	chr1:226813897-226813898
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:226813853..226814408-chr1:227058039..227058842,2	K562	blood:
2	chr1:226813855..226814772-chr1:227015587..227016264,3	MCF-7	breast:
3	chr1:226813787..226814594-chr1:227015029..227016132,3	MCF-7	breast:
4	chr1:226595295..226597019-chr1:226813478..226815614,2	K562	blood:
5	chr1:226813241..226815997-chr11:42078733..42081307,2	K562	blood:
6	chr1:226612137..226612857-chr1:226813505..226814375,2	K562	blood:

Variant related genes	Relation type
ENSG00000143799	Chromatin interaction
ENSG00000143801	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs3754388	0.86[EUR][1000 genomes]
rs41268731	0.86[EUR][1000 genomes]
rs41440951	0.86[EUR][1000 genomes]
rs4653456	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4653458	0.86[EUR][1000 genomes]
rs4653459	0.86[EUR][1000 genomes]
rs4653460	0.86[EUR][1000 genomes]
rs4653760	0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4653761	0.86[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	nsv470779	chr1:226778432-226833304	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv873234	chr1:226779449-226859676	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv522446	chr1:226785530-226923938	Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226806200-226825800	Weak transcription	Right Atrium	heart
2	chr1:226810600-226822600	Weak transcription	Gastric	stomach
3	chr1:226811600-226814000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:226812000-226814000	Weak transcription	Primary T cells from cord blood	blood
5	chr1:226812000-226814200	Enhancers	NHEK	skin
6	chr1:226812200-226814200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr1:226812200-226814200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:226812400-226814000	Weak transcription	Brain Hippocampus Middle	brain
9	chr1:226812400-226817800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:226812600-226814000	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:226812600-226814000	Weak transcription	Fetal Muscle Leg	muscle
12	chr1:226813000-226814000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:226813200-226814800	Enhancers	Fetal Brain Male	brain
14	chr1:226813400-226814000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:226813600-226814000	Enhancers	Primary B cells from peripheral blood	blood
16	chr1:226813600-226814200	Enhancers	Right Ventricle	heart
17	chr1:226813800-226814000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr1:226813800-226814000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr1:226813800-226814000	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr1:226813800-226814000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr1:226813800-226814000	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr1:226813800-226814000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr1:226813800-226814000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr1:226813800-226814000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:226813800-226814000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr1:226813800-226814000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:226813800-226814000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr1:226813800-226814000	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr1:226813800-226814000	Enhancers	Rectal Smooth Muscle	rectum
30	chr1:226813800-226814000	Active TSS	Stomach Smooth Muscle	stomach
31	chr1:226813800-226814000	Enhancers	Spleen	Spleen
32	chr1:226813800-226814000	Enhancers	Dnd41	blood
33	chr1:226813800-226815000	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr1:226813800-226815400	Enhancers	Primary B cells from cord blood	blood
35	chr1:226813800-226817000	Enhancers	Colon Smooth Muscle	Colon
36	chr1:226813800-226817200	Weak transcription	Lung	lung

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