Variant report

Variant	rs2092926
Chromosome Location	chr1:173728861-173728862
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:173727893..173730876-chr1:173792741..173795143,2	K562	blood:

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9662213	0.84[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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv3598	chr1:173693027-173738687	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173695800-173729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr1:173713400-173731600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr1:173720000-173730000	Strong transcription	Primary B cells from cord blood	blood
4	chr1:173720000-173730600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr1:173720200-173729000	Strong transcription	Sigmoid Colon	Sigmoid Colon
6	chr1:173720200-173729000	Strong transcription	Dnd41	blood
7	chr1:173720200-173729600	Strong transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:173720200-173729800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr1:173720200-173730000	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr1:173720200-173730200	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr1:173720400-173729800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:173720600-173729000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:173720800-173729000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:173720800-173729000	Strong transcription	Brain Inferior Temporal Lobe	brain
15	chr1:173720800-173729200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:173720800-173729400	Strong transcription	Primary T cells from cord blood	blood
17	chr1:173720800-173729600	Strong transcription	Adipose Nuclei	Adipose
18	chr1:173720800-173729800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:173720800-173729800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:173720800-173729800	Strong transcription	Fetal Thymus	thymus
21	chr1:173720800-173730000	Strong transcription	Primary B cells from peripheral blood	blood
22	chr1:173720800-173730000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:173721000-173729000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:173721000-173729600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr1:173721000-173730400	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr1:173721200-173730200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr1:173721400-173729200	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:173721400-173729200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr1:173721400-173729400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr1:173721400-173729600	Strong transcription	Placenta	Placenta
31	chr1:173721600-173729400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:173721800-173729000	Strong transcription	Primary T killer memory cells from peripheral blood	blood
33	chr1:173721800-173729200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
34	chr1:173723800-173729000	Strong transcription	Brain Anterior Caudate	brain
35	chr1:173724000-173729000	Strong transcription	Rectal Mucosa Donor 31	rectum
36	chr1:173724000-173729800	Strong transcription	Liver	Liver
37	chr1:173724200-173729800	Strong transcription	Thymus	Thymus
38	chr1:173724400-173730200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:173724400-173730200	Strong transcription	HSMMtube	muscle
40	chr1:173724600-173729000	Strong transcription	Stomach Smooth Muscle	stomach
41	chr1:173724800-173729000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:173724800-173729000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:173724800-173729000	Strong transcription	Brain Angular Gyrus	brain
44	chr1:173724800-173729000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:173725400-173729000	Strong transcription	Right Ventricle	heart
46	chr1:173725400-173729800	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr1:173725600-173729200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr1:173725800-173729600	Strong transcription	A549	lung
49	chr1:173725800-173730000	Strong transcription	Fetal Kidney	kidney
50	chr1:173726000-173729000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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