Variant report

Variant	rs3791021
Chromosome Location	chr1:173807157-173807158
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173805772..173808648-chr1:173867420..173869659,2	MCF-7	breast:
2	chr1:173789792..173811494-chr1:173827886..173840273,103	K562	blood:
3	chr1:173801349..173803669-chr1:173807043..173808989,2	K562	blood:
4	chr1:173806912..173810743-chr1:173835161..173838732,5	MCF-7	breast:
5	chr1:173805209..173808056-chr1:173809732..173812323,2	K562	blood:
6	chr1:173806275..173809871-chr1:173825699..173827456,4	K562	blood:
7	chr1:173806463..173809334-chr1:173834931..173839420,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185278	Chromatin interaction
ENSG00000270084	Chromatin interaction
ENSG00000234741	Chromatin interaction
ENSG00000208317	Chromatin interaction
ENSG00000117593	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs16846418	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16846433	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846478	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16846526	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16846546	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16846561	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2065170	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2068871	0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2146372	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2227589	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2227592	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2235095	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2759328	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3791022	0.88[ASN][1000 genomes]
rs57022387	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58994962	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61262741	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61649485	0.88[ASN][1000 genomes]
rs6656255	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6696381	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6790	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs941988	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9970048	0.84[EUR][1000 genomes];1.00[ASN][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	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 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	chr1:173794400-173812600	Weak transcription	Small Intestine	intestine
2	chr1:173794400-173832800	Weak transcription	Fetal Heart	heart
3	chr1:173794600-173808600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr1:173794600-173809600	Weak transcription	Fetal Kidney	kidney
5	chr1:173794600-173810600	Weak transcription	Ovary	ovary
6	chr1:173794600-173812400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:173794600-173812600	Weak transcription	Aorta	Aorta
8	chr1:173794600-173813000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:173794600-173814600	Weak transcription	Esophagus	oesophagus
10	chr1:173794600-173820600	Weak transcription	NHLF	lung
11	chr1:173794600-173821800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:173794600-173821800	Weak transcription	Pancreas	Pancrea
13	chr1:173794600-173822000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr1:173794600-173832000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr1:173794600-173832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:173794600-173832600	Weak transcription	Brain Substantia Nigra	brain
17	chr1:173794600-173833800	Weak transcription	Stomach Mucosa	stomach
18	chr1:173794800-173808200	Weak transcription	Fetal Brain Female	brain
19	chr1:173794800-173809400	Weak transcription	Right Ventricle	heart
20	chr1:173794800-173834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:173795000-173808600	Weak transcription	Colonic Mucosa	Colon
22	chr1:173795000-173826200	Weak transcription	Psoas Muscle	Psoas
23	chr1:173795000-173834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr1:173795200-173822400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:173795200-173824600	Weak transcription	Gastric	stomach
26	chr1:173795400-173817400	Weak transcription	Fetal Brain Male	brain
27	chr1:173795800-173814000	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:173796000-173818000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:173796200-173812800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr1:173796200-173817800	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:173797200-173828400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:173797600-173812800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:173797800-173815800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr1:173798400-173811000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:173798400-173815600	Strong transcription	Dnd41	blood
36	chr1:173798800-173816000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:173799200-173813600	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr1:173799400-173813400	Strong transcription	Primary B cells from cord blood	blood
39	chr1:173799400-173814200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr1:173799400-173815800	Strong transcription	Placenta	Placenta
41	chr1:173799400-173815800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr1:173799400-173820400	Strong transcription	Fetal Intestine Large	intestine
43	chr1:173799600-173807400	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr1:173799600-173811200	Strong transcription	Primary T cells fromperipheralblood	blood
45	chr1:173799600-173813400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr1:173799600-173813600	Strong transcription	Adipose Nuclei	Adipose
47	chr1:173799600-173814800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:173799600-173817000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr1:173799600-173828800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr1:173799800-173811200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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