Variant report

Variant	rs73037083
Chromosome Location	chr1:173828025-173828026
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:173825088-173838434	K562	blood:	n/a	n/a
2	POLR2A	chr1:173827997-173836225	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:173827654-173828316	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr1:173824570-173837689	A549	lung:	n/a	n/a
5	POLR2A	chr1:173827711-173828254	K562	blood:	n/a	n/a
6	POLR2A	chr1:173822006-173838661	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr1:173824562-173838422	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr1:173827678-173828059	GM12892	blood:	n/a	n/a
9	POLR2A	chr1:173825936-173838412	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr1:173827797-173828302	K562	blood:	n/a	n/a
11	POLR2A	chr1:173824467-173838308	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr1:173827749-173828088	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:173686890..173689888-chr1:173826040..173828331,2	MCF-7	breast:
2	chr1:173397788..173400470-chr1:173826012..173828676,2	K562	blood:
3	chr1:173789792..173811494-chr1:173827886..173840273,103	K562	blood:
4	chr1:173826504..173829648-chr1:173870510..173874111,3	K562	blood:
5	chr1:173397788..173400403-chr1:173827176..173829945,2	K562	blood:
6	chr1:173827518..173829337-chr1:174042561..174045221,2	MCF-7	breast:
7	chr1:173826105..173828318-chr1:173891336..173894864,3	K562	blood:
8	chr1:173457080..173459531-chr1:173825329..173828115,2	K562	blood:
9	chr1:173826383..173830416-chr1:173877536..173882048,5	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SERPINC1-1	chr1:173827684-173834420	NONHSAT007659

No data

Variant related genes	Relation type
GAS5-AS1	TF binding region
ENSG00000117593	Chromatin interaction
ENSG00000120334	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1322769	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846397	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16846483	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2227620	1.00[AMR][1000 genomes]
rs57006357	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57343517	1.00[AMR][1000 genomes]
rs58576036	1.00[AMR][1000 genomes]
rs58930477	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59355797	1.00[AMR][1000 genomes]
rs59846661	1.00[AMR][1000 genomes]
rs6667627	1.00[AMR][1000 genomes]
rs6704413	1.00[AMR][1000 genomes]
rs73025612	1.00[AMR][1000 genomes]
rs73025620	1.00[AMR][1000 genomes]
rs73027407	1.00[AMR][1000 genomes]
rs73027443	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027460	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027463	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73027464	1.00[AMR][1000 genomes]
rs73027488	1.00[AMR][1000 genomes]
rs73035116	1.00[AMR][1000 genomes]
rs73035134	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035139	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037097	1.00[AMR][1000 genomes]
rs73041050	1.00[AMR][1000 genomes]
rs73041059	1.00[AMR][1000 genomes]
rs7519571	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7531236	1.00[AMR][1000 genomes]
rs7539992	1.00[AMR][1000 genomes]
rs7547873	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9726181	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	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
3	esv2757761	chr1:173810642-173955943	Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases
4	esv2758978	chr1:173810642-173955943	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	264 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173794400-173832800	Weak transcription	Fetal Heart	heart
2	chr1:173794600-173832000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:173794600-173832000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:173794600-173832600	Weak transcription	Brain Substantia Nigra	brain
5	chr1:173794600-173833800	Weak transcription	Stomach Mucosa	stomach
6	chr1:173794800-173834000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:173795000-173834600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:173797200-173828400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:173799600-173828800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr1:173809800-173831800	Weak transcription	Colonic Mucosa	Colon
11	chr1:173811200-173829200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:173813200-173831800	Weak transcription	Right Ventricle	heart
13	chr1:173813200-173832000	Weak transcription	Small Intestine	intestine
14	chr1:173813400-173831000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:173818200-173831600	Weak transcription	Fetal Brain Male	brain
16	chr1:173818400-173829000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr1:173818400-173829800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:173818600-173829600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:173818600-173830200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr1:173818600-173834800	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:173818600-173834800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr1:173819200-173828200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:173819200-173833200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr1:173819200-173833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:173819200-173834000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:173819400-173829800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr1:173819400-173832000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr1:173819400-173834800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:173819600-173830000	Weak transcription	Right Atrium	heart
30	chr1:173819600-173834000	Strong transcription	Fetal Thymus	thymus
31	chr1:173819600-173835600	Strong transcription	Fetal Muscle Trunk	muscle
32	chr1:173820400-173828200	Strong transcription	Adipose Nuclei	Adipose
33	chr1:173820400-173828600	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:173820600-173828200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr1:173820600-173833800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:173820600-173834000	Strong transcription	Primary B cells from peripheral blood	blood
37	chr1:173821000-173828600	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:173821000-173834000	Strong transcription	Liver	Liver
39	chr1:173821000-173834000	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr1:173821800-173829400	Strong transcription	Placenta	Placenta
41	chr1:173822000-173834000	Strong transcription	Fetal Intestine Large	intestine
42	chr1:173822400-173832600	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:173822400-173833600	Strong transcription	Fetal Brain Female	brain
44	chr1:173822400-173833800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr1:173822800-173829600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr1:173822800-173830800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr1:173822800-173831000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:173822800-173831800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr1:173822800-173832400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:173822800-173832400	Weak transcription	Primary T killer memory cells from peripheral blood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links