Variant report

Variant	rs7388
Chromosome Location	chr12:122756184-122756185
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122748511..122753290-chr12:122753614..122757963,7	K562	blood:
2	chr12:122749589..122752606-chr12:122753889..122758742,5	K562	blood:
3	chr12:122461383..122462889-chr12:122756023..122758589,2	K562	blood:
4	chr12:122754913..122757093-chr12:122761269..122764385,4	K562	blood:

Variant related genes	Relation type
ENSG00000139719	Chromatin interaction
ENSG00000256861	Chromatin interaction
ENSG00000130779	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10270	0.84[CEU][hapmap];0.81[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs10848035	0.83[EUR][1000 genomes]
rs11060167	0.95[CEU][hapmap]
rs11060333	0.95[CEU][hapmap]
rs12423987	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12424872	0.84[CEU][hapmap];0.81[CHB][hapmap];0.95[JPT][hapmap]
rs12425684	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12578739	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12578815	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12578863	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12578953	0.89[ASN][1000 genomes]
rs12580084	0.84[CEU][hapmap];0.91[JPT][hapmap]
rs12809220	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12810587	0.91[CEU][hapmap]
rs12811503	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12814516	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12814554	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12814923	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12815053	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12816400	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12816499	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12820704	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12822121	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12824385	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12824701	0.91[CEU][hapmap];0.81[CHB][hapmap];0.86[JPT][hapmap];0.85[EUR][1000 genomes]
rs12824925	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12825008	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12825149	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12825279	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12826834	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12831210	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1512023	0.91[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1967291	0.86[EUR][1000 genomes]
rs2063510	0.86[JPT][hapmap]
rs2068223	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2271408	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.84[EUR][1000 genomes]
rs2271409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2277332	0.86[JPT][hapmap]
rs2277333	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34325222	0.81[ASN][1000 genomes]
rs34383196	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35030971	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35772530	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35963777	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3782153	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs3782154	0.86[JPT][hapmap]
rs3809116	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4567503	0.86[JPT][hapmap]
rs4758649	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4758650	0.83[CEU][hapmap];0.86[JPT][hapmap]
rs4758670	0.90[JPT][hapmap]
rs4758677	0.95[CEU][hapmap]
rs6488906	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6488909	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7313284	1.00[YRI][hapmap]
rs7962385	0.83[CEU][hapmap];0.86[JPT][hapmap]
rs7963565	0.83[CEU][hapmap];0.81[JPT][hapmap]
rs7964911	0.83[ASN][1000 genomes]
rs7970027	0.83[CEU][hapmap];0.86[JPT][hapmap]
rs872451	0.91[CEU][hapmap]
rs907482	0.83[CEU][hapmap];0.86[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7388	MLXIP	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122751400-122757400	Weak transcription	Spleen	Spleen
2	chr12:122751600-122757200	Weak transcription	Gastric	stomach
3	chr12:122751600-122803400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:122751800-122757200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:122751800-122757200	Weak transcription	Ovary	ovary
6	chr12:122751800-122757400	Weak transcription	Esophagus	oesophagus
7	chr12:122751800-122757400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr12:122751800-122760400	Weak transcription	Pancreas	Pancrea
9	chr12:122751800-122760800	Weak transcription	Aorta	Aorta
10	chr12:122751800-122762800	Weak transcription	Psoas Muscle	Psoas
11	chr12:122751800-122762800	Weak transcription	Small Intestine	intestine
12	chr12:122752000-122756200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr12:122752000-122756200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr12:122752000-122756200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr12:122752000-122756200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr12:122752000-122756200	Weak transcription	A549	lung
17	chr12:122752000-122756200	Weak transcription	HSMM	muscle
18	chr12:122752000-122756600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:122752000-122756800	Weak transcription	Brain Angular Gyrus	brain
20	chr12:122752000-122756800	Weak transcription	Brain Anterior Caudate	brain
21	chr12:122752000-122756800	Weak transcription	Colonic Mucosa	Colon
22	chr12:122752000-122756800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:122752000-122756800	Weak transcription	Fetal Intestine Large	intestine
24	chr12:122752000-122756800	Weak transcription	NHDF-Ad	bronchial
25	chr12:122752000-122756800	Weak transcription	NHEK	skin
26	chr12:122752000-122757000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:122752000-122757000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:122752000-122757000	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:122752000-122757000	Weak transcription	Fetal Brain Female	brain
30	chr12:122752000-122757000	Weak transcription	HSMMtube	muscle
31	chr12:122752000-122757200	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr12:122752000-122757200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr12:122752000-122757200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr12:122752000-122757200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:122752000-122757200	Weak transcription	Brain Germinal Matrix	brain
36	chr12:122752000-122757200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:122752000-122757200	Weak transcription	Fetal Muscle Trunk	muscle
38	chr12:122752000-122757200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:122752000-122757200	Weak transcription	Right Ventricle	heart
40	chr12:122752000-122757200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr12:122752000-122757200	Weak transcription	GM12878-XiMat	blood
42	chr12:122752000-122757200	Weak transcription	HMEC	breast
43	chr12:122752000-122757200	Weak transcription	NHLF	lung
44	chr12:122752000-122757400	Weak transcription	Primary T cells from cord blood	blood
45	chr12:122752000-122757400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:122752000-122757400	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr12:122752000-122761400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:122752000-122761400	Weak transcription	HepG2	liver
49	chr12:122752000-122762600	Weak transcription	Fetal Lung	lung
50	chr12:122752000-122762800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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