Variant report

Variant	rs570181915
Chromosome Location	chr5:115894700-115894701
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:115894489-115896585	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTCF	chr5:115894680-115894830	GM06990	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115892597..115894869-chr5:115895299..115897417,2	K562	blood:

Variant related genes	Relation type
ENSG00000239528	TF binding region
SEMA6A	TF binding region

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	esv3357229	chr5:115893403-115895551	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	esv2549113	chr5:115893414-115894761	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv5985	chr5:115893882-115894705	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	esv3420287	chr5:115893903-115895001	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115880800-115900600	Weak transcription	Fetal Kidney	kidney
2	chr5:115882600-115895400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr5:115886600-115901000	Weak transcription	Placenta	Placenta
4	chr5:115887400-115895000	Weak transcription	Lung	lung
5	chr5:115887400-115897000	Weak transcription	Small Intestine	intestine
6	chr5:115889000-115895200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr5:115889400-115895000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:115889400-115899400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:115889600-115895400	Weak transcription	Fetal Brain Female	brain
10	chr5:115889600-115898400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:115890000-115900800	Enhancers	Brain Hippocampus Middle	brain
12	chr5:115890600-115907800	Weak transcription	Spleen	Spleen
13	chr5:115890800-115894800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr5:115890800-115894800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:115890800-115894800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr5:115890800-115895000	Weak transcription	Left Ventricle	heart
17	chr5:115890800-115895600	Weak transcription	Pancreas	Pancrea
18	chr5:115890800-115895800	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:115890800-115898800	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr5:115890800-115907600	Weak transcription	Colonic Mucosa	Colon
21	chr5:115891000-115895800	Weak transcription	Stomach Smooth Muscle	stomach
22	chr5:115891000-115898200	Weak transcription	Right Atrium	heart
23	chr5:115891000-115900600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:115891000-115907600	Weak transcription	Ovary	ovary
25	chr5:115891200-115904600	Weak transcription	Fetal Stomach	stomach
26	chr5:115891400-115895400	Weak transcription	Psoas Muscle	Psoas
27	chr5:115891400-115905200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:115891800-115894800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr5:115892000-115894800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr5:115892600-115894800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr5:115893000-115894800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr5:115893000-115894800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:115893000-115894800	Weak transcription	Fetal Intestine Small	intestine
34	chr5:115893200-115894800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr5:115893200-115895000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr5:115893200-115895200	Weak transcription	Fetal Muscle Leg	muscle
37	chr5:115893200-115895400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:115893400-115895000	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr5:115893400-115895600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:115893600-115895000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr5:115893600-115895400	Weak transcription	HepG2	liver
42	chr5:115893600-115895600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:115893600-115896400	Weak transcription	Fetal Intestine Large	intestine
44	chr5:115893800-115894800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr5:115893800-115902400	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr5:115894400-115895200	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr5:115894400-115897000	Enhancers	Primary hematopoietic stem cells	blood
48	chr5:115894400-115900800	Enhancers	Brain Cingulate Gyrus	brain
49	chr5:115894400-115902600	Enhancers	Brain Substantia Nigra	brain
50	chr5:115894600-115894800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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