Variant report

Variant	rs5994436
Chromosome Location	chr22:32250725-32250726
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:32250289..32253223-chr22:32340539..32342385,2	K562	blood:
2	chr22:32250027..32255724-chr22:32338796..32342533,6	K562	blood:

Variant related genes	Relation type
ENSG00000128254	Chromatin interaction
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1013703	0.83[CEU][hapmap];0.85[MEX][hapmap]
rs1076674	0.88[GIH][hapmap]
rs11089530	0.96[AMR][1000 genomes]
rs11089531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703040	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11703104	0.91[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11703232	0.91[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11703275	0.83[CEU][hapmap];0.89[AMR][1000 genomes]
rs11703810	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs11703854	0.85[AMR][1000 genomes]
rs11704377	0.89[AMR][1000 genomes]
rs11705097	0.83[AMR][1000 genomes]
rs11705329	0.83[CEU][hapmap]
rs11912760	1.00[CHB][hapmap]
rs12159673	0.91[CEU][hapmap];0.89[YRI][hapmap];0.94[AMR][1000 genomes]
rs131237	0.88[GIH][hapmap]
rs131243	0.83[CEU][hapmap]
rs131246	0.83[CEU][hapmap]
rs131252	0.83[CEU][hapmap]
rs131254	0.83[CEU][hapmap]
rs140079	0.88[GIH][hapmap]
rs16989529	0.91[CEU][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes]
rs16989540	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.88[YRI][hapmap];0.81[AMR][1000 genomes]
rs16989600	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs16989711	1.00[CHB][hapmap]
rs2040981	0.83[CEU][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap]
rs2051583	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.81[ASN][1000 genomes]
rs2413058	0.82[CEU][hapmap]
rs3804088	0.88[GIH][hapmap]
rs55645350	0.94[AMR][1000 genomes]
rs55699591	0.94[AMR][1000 genomes]
rs5994435	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs5994446	0.81[MEX][hapmap]
rs5998098	0.88[GIH][hapmap]
rs5998114	0.83[CEU][hapmap]
rs5998123	0.85[AMR][1000 genomes]
rs5998133	0.83[CEU][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.89[AMR][1000 genomes]
rs5998134	0.91[CEU][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes]
rs5998135	0.91[CEU][hapmap];0.89[YRI][hapmap];0.96[AMR][1000 genomes]
rs5998144	1.00[ASW][hapmap];1.00[CHB][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.85[MEX][hapmap];0.90[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5998150	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs5998155	0.81[ASN][1000 genomes]
rs5998161	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60136719	0.83[AMR][1000 genomes]
rs62238904	0.85[AMR][1000 genomes]
rs62238906	0.89[AMR][1000 genomes]
rs62238934	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7289259	0.83[CEU][hapmap]
rs7289702	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291742	0.85[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73884225	0.81[ASN][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs5994436	SELM	cis	cerebellum	SCAN
rs5994436	INPP5J	cis	parietal	SCAN
rs5994436	YWHAH	cis	cerebellum	SCAN
rs5994436	SLC35E4	cis	parietal	SCAN
rs5994436	ASPHD2	cis	parietal	SCAN
rs5994436	SEZ6L	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32172200-32254400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr22:32188800-32259600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr22:32192400-32251000	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr22:32192400-32266600	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr22:32197200-32251000	Strong transcription	Primary B cells from cord blood	blood
6	chr22:32205200-32257600	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr22:32209000-32254600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr22:32210600-32251000	Strong transcription	Fetal Stomach	stomach
9	chr22:32221400-32254600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr22:32226200-32263200	Weak transcription	Stomach Mucosa	stomach
11	chr22:32227000-32254200	Strong transcription	Fetal Intestine Small	intestine
12	chr22:32227600-32254200	Strong transcription	Duodenum Mucosa	Duodenum
13	chr22:32229600-32254600	Strong transcription	Fetal Muscle Trunk	muscle
14	chr22:32229800-32251000	Strong transcription	Fetal Muscle Leg	muscle
15	chr22:32229800-32253000	Strong transcription	Fetal Intestine Large	intestine
16	chr22:32230600-32250800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr22:32231400-32251000	Strong transcription	Spleen	Spleen
18	chr22:32231400-32260400	Strong transcription	Liver	Liver
19	chr22:32236000-32255000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr22:32236400-32250800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:32238000-32250800	Strong transcription	Stomach Smooth Muscle	stomach
22	chr22:32238000-32258000	Strong transcription	Rectal Mucosa Donor 29	rectum
23	chr22:32238600-32250800	Strong transcription	Dnd41	blood
24	chr22:32241400-32263600	Weak transcription	HSMMtube	muscle
25	chr22:32242000-32253600	Weak transcription	Fetal Kidney	kidney
26	chr22:32242400-32313400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr22:32242800-32266400	Strong transcription	Primary monocytes fromperipheralblood	blood
28	chr22:32243000-32252800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:32243000-32263000	Strong transcription	Primary B cells from peripheral blood	blood
30	chr22:32243200-32294200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr22:32243600-32266200	Weak transcription	A549	lung
32	chr22:32244000-32257400	Weak transcription	HMEC	breast
33	chr22:32244400-32253400	Weak transcription	Brain Substantia Nigra	brain
34	chr22:32244400-32266200	Weak transcription	HUVEC	blood vessel
35	chr22:32244400-32305400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr22:32244600-32252800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:32244600-32253000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr22:32244600-32253200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr22:32244600-32253200	Weak transcription	K562	blood
40	chr22:32244600-32263000	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr22:32244600-32264200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:32244600-32266800	Weak transcription	Colon Smooth Muscle	Colon
43	chr22:32244600-32270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr22:32244600-32303400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
45	chr22:32244800-32266600	Weak transcription	Osteobl	bone
46	chr22:32245000-32253000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr22:32245000-32253200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr22:32245000-32253200	Weak transcription	Small Intestine	intestine
49	chr22:32245800-32250800	Strong transcription	Aorta	Aorta
50	chr22:32245800-32252000	Weak transcription	Brain Germinal Matrix	brain

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