Variant report

Variant	rs4135025
Chromosome Location	chr17:38455156-38455157
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38454975-38455387	SK-N-SH	brain:	n/a	n/a
2	FAM48A	chr17:38455040-38455197	GM12878	blood:	n/a	n/a
3	POLR2A	chr17:38455042-38455161	K562	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38452834..38455610-chr17:38456098..38459250,4	K562	blood:
2	chr17:38443941..38445881-chr17:38454602..38456834,2	MCF-7	breast:
3	chr17:38312398..38314132-chr17:38452808..38455315,2	K562	blood:
4	chr17:38453125..38455667-chr17:38498570..38500287,2	K562	blood:
5	chr17:38452309..38455993-chr17:38456154..38459767,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270145	TF binding region
ENSG00000131759	Chromatin interaction
ENSG00000270145	Chromatin interaction
ENSG00000094804	Chromatin interaction
ENSG00000265666	Chromatin interaction

rs_ID	r²[population]
rs4135013	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7208267	1.00[AMR][1000 genomes]
rs8079202	1.00[AMR][1000 genomes]

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38444600-38459400	Weak transcription	Brain Angular Gyrus	brain
2	chr17:38444600-38459400	Weak transcription	Spleen	Spleen
3	chr17:38444600-38459600	Weak transcription	Brain Anterior Caudate	brain
4	chr17:38444600-38459600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:38444600-38459600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:38444800-38459200	Weak transcription	Fetal Intestine Large	intestine
7	chr17:38444800-38459400	Weak transcription	Fetal Kidney	kidney
8	chr17:38444800-38459400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:38444800-38459600	Weak transcription	Right Ventricle	heart
10	chr17:38444800-38459600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr17:38444800-38462600	Weak transcription	Esophagus	oesophagus
12	chr17:38445000-38459600	Weak transcription	Colonic Mucosa	Colon
13	chr17:38445400-38459400	Weak transcription	Primary T cells from cord blood	blood
14	chr17:38445400-38459400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:38445600-38457400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr17:38445600-38459600	Weak transcription	Primary B cells from cord blood	blood
17	chr17:38445600-38460200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:38445600-38462600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr17:38445800-38457200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:38446000-38459400	Strong transcription	Fetal Thymus	thymus
21	chr17:38446000-38461000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:38447000-38459200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr17:38447000-38459200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr17:38447000-38459600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr17:38447000-38459600	Weak transcription	Placenta	Placenta
26	chr17:38447200-38459200	Weak transcription	Liver	Liver
27	chr17:38447200-38459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr17:38447400-38458800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr17:38447400-38459200	Weak transcription	Rectal Smooth Muscle	rectum
30	chr17:38447400-38459200	Strong transcription	A549	lung
31	chr17:38447600-38455600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr17:38447800-38459200	Weak transcription	Fetal Lung	lung
33	chr17:38448600-38460000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:38449000-38455200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:38449200-38460200	Strong transcription	HepG2	liver
36	chr17:38449400-38459000	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr17:38449400-38459200	Strong transcription	K562	blood
38	chr17:38449800-38459000	Strong transcription	HMEC	breast
39	chr17:38450400-38455200	Weak transcription	Colon Smooth Muscle	Colon
40	chr17:38450800-38461200	Strong transcription	Dnd41	blood
41	chr17:38451000-38455200	Strong transcription	Fetal Stomach	stomach
42	chr17:38451600-38457400	Strong transcription	Thymus	Thymus
43	chr17:38452200-38456200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:38452200-38457000	Weak transcription	Primary neutrophils fromperipheralblood	blood
45	chr17:38452400-38455800	Weak transcription	Fetal Intestine Small	intestine
46	chr17:38452400-38456800	Enhancers	HSMMtube	muscle
47	chr17:38452400-38459000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr17:38452400-38459400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr17:38452600-38455600	Weak transcription	Primary hematopoietic stem cells	blood
50	chr17:38452600-38458200	Strong transcription	ES-I3 Cell Line	embryonic stem cell

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