Variant report

Variant	rs62319102
Chromosome Location	chr4:88296092-88296093
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	RPC155	chr4:88295913-88296446	Hela-S3	cervix:	n/a	n/a
2	RCOR1	chr4:88295938-88296626	IMR90	lung:	n/a	n/a
3	TCF7L2	chr4:88296071-88296445	Hela-S3	cervix:	n/a	n/a
4	GTF3C2	chr4:88296048-88296438	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:88294120..88296895-chr4:88310582..88312667,2	K562	blood:
2	chr4:88293477..88300868-chr4:88308814..88313684,7	K562	blood:

Variant related genes	Relation type
HSD17B11	TF binding region
ENSG00000198189	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs11722370	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11727469	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4435709	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4585263	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4635784	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55721398	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55806847	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56156416	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56354112	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs56878407	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57124432	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61376571	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319098	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs62319099	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319100	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319101	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319103	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319104	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319105	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62319109	0.91[EUR][1000 genomes]
rs62319110	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6531985	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66699153	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67026749	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6817185	0.88[EUR][1000 genomes]
rs6817242	0.90[EUR][1000 genomes]
rs6818142	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6833678	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6839488	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6839620	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6840102	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6840247	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6849382	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6849846	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7661455	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7677036	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7682516	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7682892	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7697960	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9684766	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs9684778	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004518	chr4:88218473-88354403	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv1002789	chr4:88239340-88606485	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:88254800-88311800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr4:88256200-88310600	Weak transcription	Right Ventricle	heart
3	chr4:88257800-88311800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:88267400-88308000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:88267800-88306000	Weak transcription	Fetal Brain Female	brain
6	chr4:88271200-88298000	Weak transcription	HSMMtube	muscle
7	chr4:88273400-88298800	Weak transcription	Fetal Heart	heart
8	chr4:88274200-88296200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:88274400-88296400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr4:88274400-88297000	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr4:88274400-88303400	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr4:88274600-88296200	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr4:88274600-88296400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr4:88274600-88296600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr4:88274600-88297200	Strong transcription	Fetal Intestine Large	intestine
16	chr4:88274800-88296400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr4:88274800-88298200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr4:88275200-88296200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr4:88275200-88299400	Strong transcription	Dnd41	blood
20	chr4:88276200-88311400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr4:88276400-88302800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:88278800-88297200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr4:88279800-88297200	Strong transcription	Duodenum Mucosa	Duodenum
24	chr4:88280200-88296400	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr4:88280600-88296200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr4:88282600-88303200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr4:88283400-88296600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr4:88284800-88296600	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr4:88285200-88298000	Weak transcription	NH-A	brain
30	chr4:88286800-88297000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr4:88287400-88308000	Weak transcription	Spleen	Spleen
32	chr4:88287600-88297400	Strong transcription	Primary B cells from cord blood	blood
33	chr4:88288000-88299400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr4:88288400-88296800	Strong transcription	HepG2	liver
35	chr4:88288600-88297200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr4:88289400-88297200	Strong transcription	Fetal Intestine Small	intestine
37	chr4:88289600-88296800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr4:88289800-88297000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr4:88290400-88305600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr4:88290800-88301800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr4:88291000-88296400	Strong transcription	Placenta	Placenta
42	chr4:88291000-88306000	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:88291000-88309000	Weak transcription	Right Atrium	heart
44	chr4:88292400-88296200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:88292400-88297400	Strong transcription	K562	blood
46	chr4:88292600-88296200	Strong transcription	Fetal Stomach	stomach
47	chr4:88293000-88304800	Weak transcription	Brain Germinal Matrix	brain
48	chr4:88293000-88306800	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr4:88293000-88307200	Weak transcription	Pancreas	Pancrea
50	chr4:88293000-88307600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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