Variant report

Variant	rs7943424
Chromosome Location	chr11:72609119-72609120
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:72606717..72608560-chr11:72608981..72610610,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10793048	0.87[ASW][hapmap];0.95[YRI][hapmap]
rs10793049	0.96[CEU][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10793054	0.91[CHB][hapmap];0.86[YRI][hapmap]
rs10793055	0.91[CHB][hapmap];0.91[CHD][hapmap];0.91[YRI][hapmap]
rs10793056	0.86[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.81[ASN][1000 genomes]
rs10898881	0.91[YRI][hapmap]
rs10898885	0.80[ASW][hapmap];0.95[YRI][hapmap]
rs10898894	0.80[ASW][hapmap];0.86[GIH][hapmap];0.91[YRI][hapmap]
rs10898895	0.86[YRI][hapmap]
rs11235612	0.84[LWK][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes]
rs12289752	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12293726	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12294533	0.80[ASW][hapmap];0.89[GIH][hapmap];0.91[YRI][hapmap]
rs2187494	0.87[ASW][hapmap];0.91[YRI][hapmap]
rs2276379	0.80[ASW][hapmap];0.89[GIH][hapmap];0.91[YRI][hapmap]
rs2303969	0.91[YRI][hapmap]
rs4394861	0.80[ASW][hapmap];0.95[YRI][hapmap]
rs6592500	0.95[YRI][hapmap]
rs6592508	0.86[ASW][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap]
rs7129921	0.91[CHB][hapmap];0.91[CHD][hapmap]
rs7925928	0.86[CHB][hapmap];0.86[CHD][hapmap];0.86[YRI][hapmap]
rs7936751	0.91[CHB][hapmap];0.88[CHD][hapmap];0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv975362	chr11:72598491-72611417	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7943424	ATG16L2	cis	parietal	SCAN

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72540200-72616600	Strong transcription	Primary B cells from peripheral blood	blood
2	chr11:72543200-72614800	Weak transcription	Psoas Muscle	Psoas
3	chr11:72567200-72612200	Weak transcription	Small Intestine	intestine
4	chr11:72577200-72651600	Weak transcription	Gastric	stomach
5	chr11:72581800-72619600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr11:72582600-72622000	Weak transcription	Fetal Heart	heart
7	chr11:72593200-72615000	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr11:72593200-72616200	Strong transcription	Primary B cells from cord blood	blood
9	chr11:72594200-72619400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:72594800-72613800	Weak transcription	Colonic Mucosa	Colon
11	chr11:72597200-72612200	Weak transcription	Aorta	Aorta
12	chr11:72597200-72634200	Weak transcription	NHLF	lung
13	chr11:72597600-72609400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr11:72597600-72617600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr11:72597800-72614600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr11:72599200-72613200	Weak transcription	Fetal Brain Female	brain
17	chr11:72599200-72614800	Weak transcription	Brain Cingulate Gyrus	brain
18	chr11:72599200-72614800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:72599400-72613400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:72599400-72632400	Weak transcription	HUVEC	blood vessel
21	chr11:72599800-72614800	Weak transcription	Brain Germinal Matrix	brain
22	chr11:72600800-72615000	Weak transcription	Fetal Intestine Large	intestine
23	chr11:72600800-72623600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr11:72600800-72632600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr11:72600800-72653200	Weak transcription	Lung	lung
26	chr11:72601000-72611600	Weak transcription	Primary neutrophils fromperipheralblood	blood
27	chr11:72601000-72612000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr11:72601000-72614400	Weak transcription	Fetal Stomach	stomach
29	chr11:72601000-72614800	Weak transcription	Fetal Intestine Small	intestine
30	chr11:72601000-72620800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr11:72601000-72624000	Weak transcription	Thymus	Thymus
32	chr11:72601000-72636800	Weak transcription	Spleen	Spleen
33	chr11:72601000-72641200	Weak transcription	HSMMtube	muscle
34	chr11:72601200-72611400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:72601200-72612000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:72601200-72614000	Weak transcription	Fetal Muscle Trunk	muscle
37	chr11:72601200-72614200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr11:72601200-72615200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:72601200-72616400	Weak transcription	Adipose Nuclei	Adipose
40	chr11:72601200-72616600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:72601200-72617400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:72601200-72617600	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:72601200-72617600	Weak transcription	Fetal Muscle Leg	muscle
44	chr11:72601200-72617800	Weak transcription	Fetal Lung	lung
45	chr11:72601200-72619800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr11:72601200-72622800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:72601200-72623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr11:72601200-72623600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr11:72601200-72636000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:72601400-72610000	Weak transcription	Primary T helper cells fromperipheralblood	blood

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