Variant report

Variant	rs4388959
Chromosome Location	chr12:51128414-51128415
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51127689..51130073-chr12:51139077..51141310,3	K562	blood:
2	chr12:50898273..50899102-chr12:51128158..51129050,3	MCF-7	breast:
3	chr12:51127859..51130174-chr12:51157810..51160404,2	K562	blood:
4	chr12:50898202..50899146-chr12:51127703..51129153,4	K562	blood:

Variant related genes	Relation type
ENSG00000123268	Chromatin interaction
ENSG00000066084	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10506294	0.81[CEU][hapmap]
rs10747583	0.83[CHB][hapmap]
rs10747587	0.81[CEU][hapmap]
rs10783373	0.81[CEU][hapmap]
rs10783387	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs10876055	0.85[CHB][hapmap]
rs10876065	0.81[CEU][hapmap]
rs10876070	0.81[CEU][hapmap]
rs10876074	0.87[ASN][1000 genomes]
rs10876084	0.89[CHB][hapmap];0.90[JPT][hapmap]
rs10876087	0.81[ASN][1000 genomes]
rs10876098	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs11169484	0.84[CHB][hapmap]
rs11169493	0.81[CEU][hapmap]
rs11169506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11169507	0.81[CEU][hapmap]
rs11169523	0.84[CHB][hapmap]
rs11169524	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs11169538	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs11169539	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs11169567	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs11169571	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs11169578	0.84[CHB][hapmap];0.94[JPT][hapmap]
rs1129406	0.88[CHB][hapmap];0.95[JPT][hapmap]
rs11503907	0.87[ASN][1000 genomes]
rs11613488	0.81[CEU][hapmap]
rs12372718	0.90[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs12427378	0.84[CHB][hapmap]
rs12818741	0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs1316607	0.84[CHB][hapmap]
rs13378012	0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs2090851	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2090852	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2139930	0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs2243571	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2264734	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2280503	0.94[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2684908	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2700478	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34553264	0.94[ASN][1000 genomes]
rs35845404	0.81[EUR][1000 genomes]
rs3742062	0.94[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs3742063	0.81[EUR][1000 genomes]
rs3742064	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs3825402	0.90[CEU][hapmap];0.81[EUR][1000 genomes]
rs3935138	0.90[CEU][hapmap];0.90[CHB][hapmap];1.00[YRI][hapmap]
rs3935870	0.84[CHB][hapmap]
rs4131769	0.81[CEU][hapmap]
rs4768853	0.81[CEU][hapmap]
rs4768907	0.81[CEU][hapmap]
rs4768911	0.81[EUR][1000 genomes]
rs4768914	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs4986838	0.89[CHB][hapmap]
rs61926278	0.98[ASN][1000 genomes]
rs6580761	0.90[CEU][hapmap];0.89[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7133974	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs7137845	0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs7305375	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs7306677	0.89[CHB][hapmap];0.94[JPT][hapmap]
rs7316864	0.91[CEU][hapmap];1.00[YRI][hapmap]
rs7487429	0.84[CHB][hapmap]
rs876078	0.81[CEU][hapmap]
rs876080	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs952318	0.80[CEU][hapmap]
rs9943712	0.81[ASN][1000 genomes]

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs4388959	DIP2B	cis	multi-tissue	Pritchard
rs4388959	DIP2B	cis	Lymphoblastoid	GTEx
rs4388959	DIP2B	cis	Thyroid	GTEx
rs4388959	KIAA1463	cis	multi-tissue	Pritchard

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51063200-51138600	Strong transcription	Primary monocytes fromperipheralblood	blood
2	chr12:51063600-51138800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr12:51063600-51145400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:51067400-51143600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:51067600-51142200	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr12:51068200-51141200	Strong transcription	Placenta	Placenta
7	chr12:51068200-51144000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:51074600-51139600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr12:51080200-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:51086200-51140800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:51086200-51142600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr12:51090400-51145400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:51090600-51138400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr12:51093600-51128600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr12:51096000-51142000	Strong transcription	Fetal Muscle Leg	muscle
16	chr12:51096200-51144600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr12:51101000-51144800	Strong transcription	Fetal Stomach	stomach
18	chr12:51105400-51133600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr12:51108200-51142200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:51110600-51141200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:51110600-51144800	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr12:51110800-51142200	Strong transcription	Lung	lung
23	chr12:51111400-51141600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr12:51111400-51141800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr12:51111400-51144600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr12:51111600-51142200	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr12:51111800-51136600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:51112000-51141800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:51112000-51142000	Strong transcription	Dnd41	blood
30	chr12:51112000-51144800	Strong transcription	Primary T cells from cord blood	blood
31	chr12:51112200-51144800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr12:51114200-51144800	Strong transcription	Cortex derived primary cultured neurospheres	brain
33	chr12:51114800-51129000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr12:51114800-51141800	Strong transcription	HepG2	liver
35	chr12:51114800-51142400	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:51116200-51140200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr12:51116200-51144000	Strong transcription	Fetal Intestine Large	intestine
38	chr12:51116800-51144000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr12:51116800-51144800	Strong transcription	Primary B cells from cord blood	blood
40	chr12:51117200-51131200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr12:51118200-51143600	Strong transcription	Adipose Nuclei	Adipose
42	chr12:51118800-51133400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:51119000-51139000	Strong transcription	Brain Substantia Nigra	brain
44	chr12:51119200-51130800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:51119200-51144600	Strong transcription	Liver	Liver
46	chr12:51120000-51128800	Strong transcription	Brain Anterior Caudate	brain
47	chr12:51120200-51140400	Strong transcription	Fetal Intestine Small	intestine
48	chr12:51120800-51139000	Strong transcription	Colonic Mucosa	Colon
49	chr12:51120800-51145400	Strong transcription	Fetal Thymus	thymus
50	chr12:51121000-51139000	Strong transcription	Spleen	Spleen

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