Variant report

Variant	rs73076963
Chromosome Location	chr1:211783008-211783009
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211781693..211784457-chr1:211822859..211825401,2	K562	blood:
2	chr1:211749761..211758387-chr1:211774495..211787871,24	K562	blood:
3	chr1:211782443..211790536-chr1:211800686..211806134,8	K562	blood:
4	chr1:211749584..211755940-chr1:211774898..211785859,28	K562	blood:
5	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
6	chr1:211757578..211759628-chr1:211782776..211785565,2	K562	blood:

Variant related genes	Relation type
ENSG00000261314	Chromatin interaction
ENSG00000170385	Chromatin interaction

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

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

rs_ID	r²[population]
rs12080424	1.00[EUR][1000 genomes]
rs1899756	1.00[EUR][1000 genomes]
rs4027038	1.00[EUR][1000 genomes]
rs58334334	1.00[EUR][1000 genomes]
rs58551885	1.00[EUR][1000 genomes]
rs6661875	1.00[EUR][1000 genomes]
rs73071184	1.00[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211771600-211786200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr1:211777000-211786600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:211777200-211786200	Weak transcription	NHLF	lung
4	chr1:211777400-211784200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:211777400-211784200	Weak transcription	NHDF-Ad	bronchial
6	chr1:211779200-211784600	Weak transcription	Right Atrium	heart
7	chr1:211779600-211784600	Weak transcription	Lung	lung
8	chr1:211780000-211784200	Weak transcription	Brain Anterior Caudate	brain
9	chr1:211780000-211784200	Weak transcription	Brain Cingulate Gyrus	brain
10	chr1:211780000-211784800	Weak transcription	Esophagus	oesophagus
11	chr1:211780400-211783800	Enhancers	Spleen	Spleen
12	chr1:211780600-211784000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:211780800-211783200	Enhancers	Duodenum Mucosa	Duodenum
14	chr1:211780800-211786400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:211781000-211784200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:211781000-211784200	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:211781000-211784200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr1:211781000-211784600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:211781000-211785400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr1:211781000-211786400	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr1:211781200-211785000	Enhancers	Liver	Liver
22	chr1:211781200-211785200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:211781200-211786200	Enhancers	K562	blood
24	chr1:211781400-211786400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:211781600-211784000	Weak transcription	Adipose Nuclei	Adipose
26	chr1:211781600-211787000	Weak transcription	Primary hematopoietic stem cells	blood
27	chr1:211781800-211783400	Enhancers	Ovary	ovary
28	chr1:211781800-211784200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:211781800-211784800	Weak transcription	Placenta	Placenta
30	chr1:211781800-211786400	Weak transcription	Stomach Mucosa	stomach
31	chr1:211781800-211792000	Weak transcription	Primary B cells from cord blood	blood
32	chr1:211782000-211784600	Weak transcription	Pancreas	Pancrea
33	chr1:211782000-211784800	Weak transcription	Colonic Mucosa	Colon
34	chr1:211782000-211785200	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:211782000-211786600	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr1:211782000-211786600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr1:211782200-211787400	Weak transcription	Small Intestine	intestine
38	chr1:211782400-211783200	Enhancers	HUVEC	blood vessel
39	chr1:211782400-211783400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:211782600-211783200	Enhancers	Stomach Smooth Muscle	stomach
41	chr1:211782600-211783200	Enhancers	A549	lung
42	chr1:211782600-211783600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:211782600-211786200	Weak transcription	Fetal Intestine Large	intestine
44	chr1:211782600-211786200	Enhancers	Hela-S3	cervix
45	chr1:211782600-211786200	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:211782800-211783200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr1:211782800-211783200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:211782800-211783200	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr1:211782800-211784000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:211782800-211784000	Weak transcription	Primary monocytes fromperipheralblood	blood

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