Variant report

Variant	rs7939378
Chromosome Location	chr11:73125248-73125249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73118868..73120938-chr11:73124092..73125726,2	MCF-7	breast:
2	chr11:73124386..73125910-chr11:73135092..73137028,2	K562	blood:
3	chr11:73122593..73125409-chr11:73127410..73129119,2	K562	blood:
4	chr11:73087075..73088800-chr11:73125067..73127654,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054967	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11826366	1.00[AMR][1000 genomes]
rs12287163	0.89[AMR][1000 genomes]
rs56172105	0.81[AFR][1000 genomes]
rs57795042	0.87[AMR][1000 genomes]
rs57960575	0.82[AFR][1000 genomes]
rs58062099	0.89[AMR][1000 genomes]
rs59043885	0.87[AMR][1000 genomes]
rs60741352	0.87[AMR][1000 genomes]
rs61528734	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104108	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7104483	1.00[MEX][hapmap];0.89[AMR][1000 genomes]
rs7929493	0.81[AFR][1000 genomes]

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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73096200-73130200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr11:73098600-73126000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr11:73098600-73132400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr11:73099200-73139800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr11:73099200-73141000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr11:73113000-73126200	Weak transcription	Small Intestine	intestine
7	chr11:73113600-73132600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:73115200-73126200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr11:73115200-73132200	Weak transcription	Fetal Heart	heart
10	chr11:73115200-73132400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:73115200-73149400	Weak transcription	Fetal Kidney	kidney
12	chr11:73116600-73126600	Weak transcription	Stomach Mucosa	stomach
13	chr11:73116800-73132600	Strong transcription	Primary B cells from cord blood	blood
14	chr11:73117000-73131400	Weak transcription	A549	lung
15	chr11:73117800-73130200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr11:73118800-73128200	Weak transcription	Fetal Brain Male	brain
17	chr11:73118800-73137600	Weak transcription	Colonic Mucosa	Colon
18	chr11:73120200-73127800	Weak transcription	HMEC	breast
19	chr11:73120600-73127400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:73120800-73125400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr11:73120800-73126400	Weak transcription	Right Ventricle	heart
22	chr11:73120800-73127800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:73120800-73128800	Weak transcription	Fetal Intestine Large	intestine
24	chr11:73120800-73129000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:73120800-73129000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr11:73120800-73129200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr11:73120800-73132600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:73120800-73133000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr11:73120800-73133000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:73120800-73140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:73120800-73141200	Weak transcription	Esophagus	oesophagus
32	chr11:73120800-73149000	Weak transcription	Fetal Lung	lung
33	chr11:73120800-73149800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr11:73120800-73150000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr11:73121000-73125600	Weak transcription	Adipose Nuclei	Adipose
36	chr11:73121000-73125800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr11:73121000-73126200	Weak transcription	Colon Smooth Muscle	Colon
38	chr11:73121000-73129000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr11:73121000-73133000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr11:73121000-73150200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr11:73121200-73129000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:73121600-73132400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr11:73121800-73125800	Weak transcription	GM12878-XiMat	blood
44	chr11:73121800-73128200	Enhancers	Brain Cingulate Gyrus	brain
45	chr11:73122000-73125800	Enhancers	Brain Hippocampus Middle	brain
46	chr11:73122000-73125800	Weak transcription	NHLF	lung
47	chr11:73122000-73126400	Weak transcription	HepG2	liver
48	chr11:73122000-73128400	Enhancers	Brain Substantia Nigra	brain
49	chr11:73122200-73126400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:73122200-73126800	Genic enhancers	Monocytes-CD14+_RO01746	blood

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