Variant report

Variant	rs7536748
Chromosome Location	chr1:9963187-9963188
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9959497..9963763-chr1:9965322..9971774,8	K562	blood:
2	chr1:9958976..9964207-chr1:9967620..9971774,11	K562	blood:

Variant related genes	Relation type
ENSG00000178585	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11808614	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57237552	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61785591	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61785593	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61785598	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6541067	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6659441	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6686017	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6690524	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054125	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74054138	0.83[AMR][1000 genomes]
rs7529783	0.83[AMR][1000 genomes]
rs7537879	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7554923	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv3372906	chr1:9838995-10052992	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv545380	chr1:9918183-9987007	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1012469	chr1:9925714-10147796	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:9949400-9967600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr1:9951600-9969000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr1:9954000-9964600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:9958000-9968800	Weak transcription	Fetal Stomach	stomach
5	chr1:9958800-9969000	Weak transcription	Hela-S3	cervix
6	chr1:9959000-9964400	Weak transcription	HSMMtube	muscle
7	chr1:9959000-9964400	Weak transcription	NH-A	brain
8	chr1:9959000-9964800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:9959600-9963800	Enhancers	Stomach Mucosa	stomach
10	chr1:9960800-9967800	Weak transcription	Thymus	Thymus
11	chr1:9960800-9969400	Weak transcription	Aorta	Aorta
12	chr1:9961000-9964000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:9961000-9964600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:9961000-9964800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:9961000-9965000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr1:9961000-9967600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:9961000-9968800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:9961000-9969000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr1:9961000-9969200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr1:9961200-9969000	Weak transcription	Primary T helper cells fromperipheralblood	blood
21	chr1:9961400-9965600	Enhancers	Left Ventricle	heart
22	chr1:9961400-9969000	Weak transcription	Primary B cells from cord blood	blood
23	chr1:9961600-9964400	Enhancers	Fetal Heart	heart
24	chr1:9961600-9968800	Weak transcription	Primary hematopoietic stem cells	blood
25	chr1:9961600-9968800	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:9961800-9964200	Weak transcription	HSMM	muscle
27	chr1:9961800-9968000	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr1:9962000-9965000	Weak transcription	HMEC	breast
29	chr1:9962000-9967600	Weak transcription	Brain Germinal Matrix	brain
30	chr1:9962000-9968800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:9962000-9968800	Weak transcription	Small Intestine	intestine
32	chr1:9962000-9969000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr1:9962000-9969000	Weak transcription	Fetal Brain Female	brain
34	chr1:9962200-9963600	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr1:9962200-9963800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr1:9962200-9964400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:9962200-9964400	Weak transcription	Placenta	Placenta
38	chr1:9962200-9964800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:9962200-9964800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:9962200-9965000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:9962200-9965000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr1:9962200-9966600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:9962200-9966600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:9962200-9967800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr1:9962200-9967800	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:9962200-9968800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr1:9962200-9969000	Weak transcription	Rectal Mucosa Donor 29	rectum
48	chr1:9962400-9963600	Weak transcription	Psoas Muscle	Psoas
49	chr1:9962400-9964800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:9962400-9965000	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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