Variant report

Variant	rs542368894
Chromosome Location	chr1:77657025-77657026
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	chr1:77656179..77658700-chr1:77659686..77662553,2	K562	blood:

Variant related genes	Relation type
ENSG00000228187	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1006887	chr1:77566348-77698128	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv520629	chr1:77584846-77695854	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv525188	chr1:77655651-77695854	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 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	chr1:77616200-77663200	Weak transcription	Brain Hippocampus Middle	brain
2	chr1:77626000-77662600	Weak transcription	Thymus	Thymus
3	chr1:77626000-77684200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:77626800-77668000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr1:77626800-77674800	Weak transcription	Ovary	ovary
6	chr1:77626800-77676200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr1:77630800-77660600	Weak transcription	Left Ventricle	heart
8	chr1:77631800-77660600	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:77638200-77662200	Weak transcription	Small Intestine	intestine
10	chr1:77643400-77669600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr1:77643600-77663000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:77643600-77672600	Weak transcription	Fetal Lung	lung
13	chr1:77643800-77674400	Weak transcription	Psoas Muscle	Psoas
14	chr1:77645600-77661600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:77646200-77660200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr1:77648000-77660800	Weak transcription	Spleen	Spleen
17	chr1:77648400-77684000	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:77648800-77661400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr1:77649000-77679800	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr1:77649200-77672400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:77649600-77666600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:77649800-77661200	Weak transcription	Pancreas	Pancrea
23	chr1:77650200-77660600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:77650800-77657800	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:77650800-77668800	Weak transcription	Adipose Nuclei	Adipose
26	chr1:77650800-77672000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:77650800-77684200	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:77651000-77660400	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:77651000-77662600	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr1:77651200-77660000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr1:77651200-77663200	Weak transcription	Duodenum Mucosa	Duodenum
32	chr1:77651200-77668000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:77651800-77660600	Weak transcription	Lung	lung
34	chr1:77651800-77664800	Weak transcription	Gastric	stomach
35	chr1:77651800-77665800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:77652000-77662000	Weak transcription	Fetal Brain Male	brain
37	chr1:77652000-77662400	Weak transcription	Right Ventricle	heart
38	chr1:77652600-77683400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr1:77653000-77657400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:77653000-77658800	Weak transcription	Aorta	Aorta
41	chr1:77653000-77661800	Weak transcription	Stomach Smooth Muscle	stomach
42	chr1:77653200-77670800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:77653400-77659200	Weak transcription	Primary B cells from cord blood	blood
44	chr1:77653400-77667800	Weak transcription	NHDF-Ad	bronchial
45	chr1:77654000-77669600	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr1:77654800-77660600	Weak transcription	NHEK	skin
47	chr1:77655000-77673400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr1:77655200-77659600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:77655200-77659800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr1:77655200-77662400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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