Variant report

Variant	rs2113508
Chromosome Location	chr2:152145654-152145655
allele	A/G
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152116868..152120610-chr2:152144685..152147660,4	MCF-7	breast:
2	chr2:152145011..152148288-chr2:152265460..152267609,4	MCF-7	breast:
3	chr2:152117973..152120026-chr2:152143620..152147532,3	K562	blood:
4	chr2:152144662..152146339-chr2:152277949..152280941,2	MCF-7	breast:
5	chr2:152144813..152149803-chr2:152261382..152268379,11	K562	blood:
6	chr2:152115426..152120009-chr2:152142898..152146726,5	K562	blood:
7	chr2:152023638..152026454-chr2:152144557..152146089,2	K562	blood:
8	chr15:41088570..41089090-chr2:152145307..152145896,2	HCT-116	colon:
9	chr2:152117804..152120182-chr2:152144785..152147621,2	MCF-7	breast:
10	chr2:152144798..152147073-chr2:152265350..152268359,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000184898	Chromatin interaction
ENSG00000080345	Chromatin interaction

Extended variants
information (count: 112 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:103)

rs_ID	r²[population]
rs10165186	0.83[EUR][1000 genomes]
rs10165284	0.83[EUR][1000 genomes]
rs10184314	0.84[EUR][1000 genomes]
rs10201139	0.83[EUR][1000 genomes]
rs10203366	0.84[EUR][1000 genomes]
rs10207408	0.83[EUR][1000 genomes]
rs10209942	0.83[EUR][1000 genomes]
rs10210155	0.83[EUR][1000 genomes]
rs1048135	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11678123	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11680338	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11683487	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11691055	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11691217	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11730	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12467046	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12471191	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12476687	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12624156	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12693004	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12987765	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12996459	0.90[ASN][1000 genomes]
rs12998170	0.84[EUR][1000 genomes]
rs13001328	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13004590	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13007728	0.86[EUR][1000 genomes]
rs13015862	0.81[EUR][1000 genomes]
rs13020769	0.84[EUR][1000 genomes]
rs13020962	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13025888	0.88[ASN][1000 genomes]
rs13027425	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13030194	0.84[EUR][1000 genomes]
rs13412131	0.84[EUR][1000 genomes]
rs13420739	0.84[EUR][1000 genomes]
rs17798290	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2194492	0.84[EUR][1000 genomes]
rs2218880	0.90[ASN][1000 genomes]
rs2271811	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2278090	0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28416443	0.81[EUR][1000 genomes]
rs2880488	0.83[ASN][1000 genomes]
rs34028108	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34092307	0.84[EUR][1000 genomes]
rs34385951	0.83[EUR][1000 genomes]
rs34433746	0.81[EUR][1000 genomes]
rs34452578	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34538548	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34548459	0.81[EUR][1000 genomes]
rs34639984	0.83[EUR][1000 genomes]
rs35371567	0.84[EUR][1000 genomes]
rs35613168	0.84[EUR][1000 genomes]
rs35659175	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35680784	0.82[EUR][1000 genomes]
rs35723696	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35791982	0.84[EUR][1000 genomes]
rs35863408	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3771882	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3854012	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3856557	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4664318	0.83[EUR][1000 genomes]
rs4664319	0.86[EUR][1000 genomes]
rs4664320	0.84[EUR][1000 genomes]
rs4664336	0.82[ASN][1000 genomes]
rs4664347	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4664349	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4665114	0.90[ASN][1000 genomes]
rs4665137	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4665150	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4665163	0.84[EUR][1000 genomes]
rs4665167	0.83[EUR][1000 genomes]
rs4665168	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4665169	0.84[EUR][1000 genomes]
rs4665170	0.82[EUR][1000 genomes]
rs55775354	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56335263	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56376752	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57201382	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59247111	0.84[EUR][1000 genomes]
rs60956116	0.83[EUR][1000 genomes]
rs6433325	0.84[EUR][1000 genomes]
rs6433327	0.84[EUR][1000 genomes]
rs66521733	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66588921	0.88[ASN][1000 genomes]
rs6705180	0.84[EUR][1000 genomes]
rs6708382	0.84[EUR][1000 genomes]
rs6713041	0.84[EUR][1000 genomes]
rs6713190	0.82[EUR][1000 genomes]
rs67181317	0.83[EUR][1000 genomes]
rs6723298	0.82[EUR][1000 genomes]
rs67303849	0.88[ASN][1000 genomes]
rs6739517	0.90[ASN][1000 genomes]
rs6752471	0.86[EUR][1000 genomes]
rs6752617	0.82[EUR][1000 genomes]
rs67693192	0.84[EUR][1000 genomes]
rs67725431	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67868855	0.84[EUR][1000 genomes]
rs71350100	0.83[EUR][1000 genomes]
rs7558169	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7559296	0.90[ASN][1000 genomes]
rs7574228	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7587037	0.85[ASN][1000 genomes]
rs9287955	0.84[EUR][1000 genomes]
rs9287956	0.84[EUR][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	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
2	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
3	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
4	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
5	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
6	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
7	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
8	nsv999748	chr2:152135514-152476396	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
9	esv1793984	chr2:152138749-152154163	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2113508	NMI	Cis_1M	lymphoblastoid	RTeQTL
rs2113508	TNFAIP6	cis	Whole Blood	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152119000-152145800	Weak transcription	HSMM	muscle
2	chr2:152144400-152146800	Active TSS	A549	lung
3	chr2:152144400-152147200	Active TSS	GM12878-XiMat	blood
4	chr2:152144800-152147000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:152144800-152147000	Active TSS	Rectal Smooth Muscle	rectum
6	chr2:152144800-152147000	Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr2:152144800-152147200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr2:152145000-152145800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr2:152145000-152147200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr2:152145200-152145800	Active TSS	Left Ventricle	heart
11	chr2:152145200-152146600	Active TSS	NHLF	lung
12	chr2:152145200-152146800	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:152145200-152146800	Active TSS	Right Ventricle	heart
14	chr2:152145200-152147000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr2:152145200-152147000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:152145200-152147000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:152145200-152147000	Active TSS	Brain Cingulate Gyrus	brain
18	chr2:152145200-152147000	Active TSS	Brain Hippocampus Middle	brain
19	chr2:152145200-152147000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr2:152145200-152147000	Active TSS	Brain Substantia Nigra	brain
21	chr2:152145200-152147000	Active TSS	Colon Smooth Muscle	Colon
22	chr2:152145200-152147000	Active TSS	Duodenum Mucosa	Duodenum
23	chr2:152145200-152147000	Active TSS	Psoas Muscle	Psoas
24	chr2:152145200-152147000	Active TSS	Right Atrium	heart
25	chr2:152145200-152147000	Active TSS	Skeletal Muscle Male	skeletal muscle
26	chr2:152145200-152147000	Active TSS	Stomach Smooth Muscle	stomach
27	chr2:152145200-152147000	Active TSS	Hela-S3	cervix
28	chr2:152145200-152147000	Active TSS	HSMMtube	muscle
29	chr2:152145200-152147000	Active TSS	Osteobl	bone
30	chr2:152145200-152147200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:152145200-152147200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr2:152145400-152145800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr2:152145400-152145800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr2:152145400-152145800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
35	chr2:152145400-152145800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:152145400-152145800	Weak transcription	NH-A	brain
37	chr2:152145400-152146400	Active TSS	HUES64 Cell Line	embryonic stem cell
38	chr2:152145400-152146400	Active TSS	Spleen	Spleen
39	chr2:152145400-152146600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr2:152145400-152146600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:152145400-152146600	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr2:152145400-152146600	Active TSS	Primary T helper cells fromperipheralblood	blood
43	chr2:152145400-152146600	Active TSS	HUVEC	blood vessel
44	chr2:152145400-152146800	Active TSS	Primary T cells from cord blood	blood
45	chr2:152145400-152146800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:152145400-152146800	Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr2:152145400-152146800	Active TSS	Adipose Nuclei	Adipose
48	chr2:152145400-152146800	Active TSS	Liver	Liver
49	chr2:152145400-152146800	Active TSS	Esophagus	oesophagus
50	chr2:152145400-152146800	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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