Variant report

Variant	rs553569838
Chromosome Location	chr1:97188986-97188987
allele	-/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:97185840..97188668-chr1:97188930..97190541,2	K562	blood:
2	chr1:97183615..97185204-chr1:97188330..97190541,2	K562	blood:

Variant related genes	Relation type
ENSG00000117569	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830681	chr1:97165786-97338064	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3414899	chr1:97187980-97211076	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	esv1797391	chr1:97188394-97293023	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	esv1801594	chr1:97188394-97293023	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:97186400-97189600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:97186400-97189600	Active TSS	NHDF-Ad	bronchial
3	chr1:97186400-97190000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr1:97186600-97189000	Active TSS	Fetal Intestine Large	intestine
5	chr1:97186600-97189000	Active TSS	Fetal Thymus	thymus
6	chr1:97186600-97189000	Active TSS	Psoas Muscle	Psoas
7	chr1:97186600-97189200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:97186600-97189200	Active TSS	Colonic Mucosa	Colon
9	chr1:97186600-97189200	Active TSS	Colon Smooth Muscle	Colon
10	chr1:97186600-97189200	Active TSS	Fetal Brain Male	brain
11	chr1:97186600-97189200	Active TSS	Fetal Muscle Trunk	muscle
12	chr1:97186600-97189200	Active TSS	Fetal Muscle Leg	muscle
13	chr1:97186600-97189200	Active TSS	Ovary	ovary
14	chr1:97186600-97189200	Active TSS	Thymus	Thymus
15	chr1:97186600-97189400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:97186600-97189600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:97186600-97189800	Active TSS	NHLF	lung
18	chr1:97186600-97190200	Active TSS	Stomach Smooth Muscle	stomach
19	chr1:97186800-97189000	Active TSS	Right Ventricle	heart
20	chr1:97186800-97189000	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr1:97186800-97189000	Active TSS	HSMM	muscle
22	chr1:97186800-97189200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr1:97186800-97189200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:97186800-97189200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr1:97186800-97189200	Active TSS	Aorta	Aorta
26	chr1:97186800-97189400	Active TSS	Brain Cingulate Gyrus	brain
27	chr1:97186800-97189400	Active TSS	Brain Hippocampus Middle	brain
28	chr1:97186800-97189400	Active TSS	Fetal Stomach	stomach
29	chr1:97186800-97190000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:97187000-97189000	Active TSS	Brain Anterior Caudate	brain
31	chr1:97187000-97189000	Active TSS	Fetal Intestine Small	intestine
32	chr1:97187000-97189200	Active TSS	H9 Cell Line	embryonic stem cell
33	chr1:97187000-97189400	Active TSS	Rectal Mucosa Donor 29	rectum
34	chr1:97187000-97189600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:97187000-97189600	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr1:97187000-97189800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:97187000-97189800	Active TSS	GM12878-XiMat	blood
38	chr1:97187200-97189400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:97187200-97189400	Active TSS	HMEC	breast
40	chr1:97187400-97191000	Transcr. at gene 5' and 3'	Dnd41	blood
41	chr1:97187800-97189200	Active TSS	Right Atrium	heart
42	chr1:97188000-97189000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:97188000-97189200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:97188000-97189400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr1:97188000-97189400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:97188000-97189600	Active TSS	Brain Germinal Matrix	brain
47	chr1:97188000-97196200	Weak transcription	Spleen	Spleen
48	chr1:97188200-97189000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr1:97188200-97189000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr1:97188200-97189000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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