Variant report

Variant	rs72896245
Chromosome Location	chr11:6400324-6400325
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:6398714..6402788-chr11:6492263..6496580,6	K562	blood:
2	chr11:6399284..6401140-chr11:6688661..6690633,2	MCF-7	breast:
3	chr11:6391164..6393393-chr11:6398964..6400664,2	K562	blood:
4	chr11:6389874..6394705-chr11:6397417..6400664,4	K562	blood:
5	chr11:6398714..6402192-chr11:6493478..6496580,5	K562	blood:
6	chr11:6400196..6400930-chr11:6526550..6527549,3	K562	blood:
7	chr11:6398312..6400551-chr11:6465206..6467299,2	K562	blood:
8	chr11:6400044..6400715-chr11:6726460..6727367,2	K562	blood:
9	chr11:6399787..6402343-chr11:6476528..6478169,2	MCF-7	breast:
10	chr11:6400252..6401140-chr11:6704657..6705206,2	MCF-7	breast:
11	chr11:6400114..6400745-chr11:6552411..6553083,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110171	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11040879	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11040880	1.00[ASN][1000 genomes]
rs11040883	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11603081	1.00[ASN][1000 genomes]
rs11604636	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12417813	1.00[ASN][1000 genomes]
rs34995289	1.00[ASN][1000 genomes]
rs4758097	1.00[ASN][1000 genomes]
rs4758415	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896248	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896249	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896251	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896252	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72896262	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7931364	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7932237	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7934983	1.00[ASN][1000 genomes]
rs7935228	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7935950	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7936698	0.91[EUR][1000 genomes]
rs7937560	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7940008	1.00[ASN][1000 genomes]
rs7950901	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv534152	chr11:6282812-6659230	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
3	nsv1046995	chr11:6339868-6658766	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers 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 target site	55 gene(s)	inside rSNPs	diseases
4	nsv553371	chr11:6395690-6434465	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:6393400-6401400	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr11:6393400-6401600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr11:6393400-6401800	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr11:6397400-6401200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr11:6397400-6401600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:6397400-6401800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr11:6397800-6401800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:6399000-6400400	Enhancers	Fetal Thymus	thymus
9	chr11:6399000-6400400	Flanking Active TSS	HUVEC	blood vessel
10	chr11:6399000-6400600	Enhancers	Primary B cells from peripheral blood	blood
11	chr11:6399000-6400600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr11:6399000-6400600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:6399000-6400600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
14	chr11:6399000-6401200	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr11:6399000-6402000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr11:6399200-6400400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr11:6399200-6400400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr11:6399200-6400600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr11:6399200-6400600	Enhancers	Primary hematopoietic stem cells	blood
20	chr11:6399200-6400600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:6399200-6400600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:6399200-6400600	Enhancers	Thymus	Thymus
23	chr11:6399400-6400400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
24	chr11:6399400-6400600	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr11:6399600-6400600	Enhancers	A549	lung
26	chr11:6399800-6400400	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr11:6399800-6400600	Enhancers	Primary neutrophils fromperipheralblood	blood
28	chr11:6399800-6400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:6399800-6400600	Enhancers	Rectal Mucosa Donor 29	rectum
30	chr11:6399800-6400600	Enhancers	Stomach Mucosa	stomach
31	chr11:6399800-6400800	Enhancers	Primary B cells from cord blood	blood
32	chr11:6400000-6400400	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr11:6400000-6400400	Enhancers	Monocytes-CD14+_RO01746	blood
34	chr11:6400000-6400600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:6400000-6400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:6400000-6401200	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr11:6400200-6409600	Weak transcription	Colonic Mucosa	Colon

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