Variant report

Variant	rs7587037
Chromosome Location	chr2:152115465-152115466
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152114685..152117760-chr2:152145226..152147705,4	K562	blood:
2	chr2:152114220..152115726-chr2:152118400..152119936,2	K562	blood:
3	chr2:150442857..150445501-chr2:152115437..152118070,2	MCF-7	breast:
4	chr2:152115426..152120009-chr2:152142898..152146726,5	K562	blood:
5	chr2:152106609..152109235-chr2:152114382..152116321,2	K562	blood:
6	chr2:152114819..152117297-chr2:152137988..152139768,2	K562	blood:
7	chr2:152110500..152112739-chr2:152114755..152117569,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231969	Chromatin interaction
ENSG00000123609	Chromatin interaction
ENSG00000168288	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs1048135	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11680338	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11683487	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11691055	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11691217	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11730	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12467046	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12471191	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12624156	0.88[ASN][1000 genomes]
rs12693004	0.88[ASN][1000 genomes]
rs12987765	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12996459	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13004590	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13020962	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13025888	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13027425	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17798290	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2113508	0.85[ASN][1000 genomes]
rs2218880	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2271811	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2278090	0.88[ASN][1000 genomes]
rs2880488	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs289904	0.83[EUR][1000 genomes]
rs289905	0.83[EUR][1000 genomes]
rs289906	0.85[EUR][1000 genomes]
rs289907	0.83[EUR][1000 genomes]
rs289921	0.82[EUR][1000 genomes]
rs289923	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs289924	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34028108	0.86[ASN][1000 genomes]
rs34452578	0.82[ASN][1000 genomes]
rs34538548	0.87[ASN][1000 genomes]
rs35659175	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3771882	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3854012	0.90[ASN][1000 genomes]
rs3856557	0.90[ASN][1000 genomes]
rs4665114	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4665137	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4665150	0.90[ASN][1000 genomes]
rs4665168	0.87[ASN][1000 genomes]
rs55775354	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56335263	0.88[ASN][1000 genomes]
rs56376752	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs57201382	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs66521733	0.90[ASN][1000 genomes]
rs66588921	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67303849	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6739517	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67725431	0.88[ASN][1000 genomes]
rs7559296	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523849	chr2:151718133-152143524	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv3693426	chr2:151725792-152295862	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv834417	chr2:151980473-152154950	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv1014936	chr2:152019809-152118479	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv1012891	chr2:152019809-152306897	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1013484	chr2:152028515-152473913	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
7	nsv535983	chr2:152028515-152473913	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers 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 miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
8	nsv1012139	chr2:152114637-152389516	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1011339	chr2:152114637-152392940	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7587037	NMI	Cis_1M	lymphoblastoid	RTeQTL
rs7587037	RBM43	cis	Whole Blood	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152094400-152117000	Weak transcription	A549	lung
2	chr2:152101600-152117200	Weak transcription	Fetal Kidney	kidney
3	chr2:152102000-152116600	Weak transcription	Pancreas	Pancrea
4	chr2:152103400-152117600	Weak transcription	Gastric	stomach
5	chr2:152103800-152117600	Weak transcription	Esophagus	oesophagus
6	chr2:152104400-152117200	Weak transcription	Colonic Mucosa	Colon
7	chr2:152104600-152117200	Weak transcription	Stomach Mucosa	stomach
8	chr2:152105800-152116800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr2:152105800-152116800	Weak transcription	K562	blood
10	chr2:152105800-152117200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr2:152105800-152117200	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:152106400-152116800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr2:152106400-152117200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr2:152106400-152117200	Weak transcription	Brain Substantia Nigra	brain
15	chr2:152106400-152117600	Weak transcription	Left Ventricle	heart
16	chr2:152106600-152116800	Weak transcription	HUVEC	blood vessel
17	chr2:152106600-152117000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:152106600-152117000	Weak transcription	Brain Anterior Caudate	brain
19	chr2:152106600-152117200	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr2:152106600-152117200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:152106600-152117200	Weak transcription	Fetal Intestine Large	intestine
22	chr2:152106600-152117400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr2:152106800-152117000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:152107400-152116800	Weak transcription	Brain Hippocampus Middle	brain
25	chr2:152107600-152117000	Weak transcription	Brain Angular Gyrus	brain
26	chr2:152108000-152117000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr2:152108000-152117200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:152108000-152117200	Weak transcription	HSMM	muscle
29	chr2:152108200-152117000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:152108200-152117000	Weak transcription	NHDF-Ad	bronchial
31	chr2:152108400-152116600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:152108400-152116800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:152108400-152117000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr2:152108400-152117000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr2:152108400-152117200	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr2:152108600-152117000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr2:152109000-152116600	Weak transcription	Placenta	Placenta
38	chr2:152109000-152116600	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr2:152109000-152117000	Weak transcription	Duodenum Mucosa	Duodenum
40	chr2:152109000-152117200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr2:152109200-152117200	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:152109400-152117000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:152109800-152116800	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:152109800-152117000	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr2:152109800-152117600	Weak transcription	Spleen	Spleen
46	chr2:152110400-152116800	Weak transcription	Primary hematopoietic stem cells	blood
47	chr2:152110400-152116800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr2:152110400-152117200	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr2:152110400-152117600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:152110400-152117600	Weak transcription	Lung	lung

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