Variant report

Variant	rs331471
Chromosome Location	chr11:36475052-36475053
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr11:36475052-36475671	HEK293-T-REx	kidney:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36469566..36471413-chr11:36472825..36475082,2	MCF-7	breast:

Variant related genes	Relation type
PRR5L	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1365119	1.00[AMR][1000 genomes]
rs230484	1.00[AMR][1000 genomes]
rs331448	1.00[AMR][1000 genomes]
rs331468	1.00[AMR][1000 genomes]
rs331469	1.00[AMR][1000 genomes]
rs331470	1.00[AMR][1000 genomes]
rs331474	1.00[AMR][1000 genomes]
rs331476	1.00[AMR][1000 genomes]
rs331481	1.00[AMR][1000 genomes]
rs331483	1.00[AMR][1000 genomes]
rs7948430	1.00[AMR][1000 genomes]
rs890260	1.00[AMR][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	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1046452	chr11:36460958-36503079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv518499	chr11:36466814-36479789	Enhancers Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36400200-36475400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr11:36414800-36475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:36464400-36478800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:36467800-36478800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr11:36469200-36475600	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr11:36469200-36475600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:36469200-36480200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr11:36469400-36475800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:36470000-36475600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:36470200-36476600	Weak transcription	Psoas Muscle	Psoas
11	chr11:36470400-36477800	Genic enhancers	Fetal Intestine Small	intestine
12	chr11:36470600-36482800	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr11:36470800-36478000	Genic enhancers	Fetal Intestine Large	intestine
14	chr11:36471000-36475400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr11:36471000-36476400	Enhancers	Fetal Thymus	thymus
16	chr11:36471000-36476400	Genic enhancers	Rectal Mucosa Donor 29	rectum
17	chr11:36471200-36475400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr11:36471200-36475800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr11:36471200-36478000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr11:36471400-36475600	Enhancers	Brain Angular Gyrus	brain
21	chr11:36471400-36475800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr11:36471600-36475800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:36471600-36478400	Genic enhancers	Rectal Mucosa Donor 31	rectum
24	chr11:36471800-36475400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr11:36471800-36506800	Weak transcription	Gastric	stomach
26	chr11:36471800-36506800	Weak transcription	Pancreas	Pancrea
27	chr11:36472000-36475400	Enhancers	Brain Cingulate Gyrus	brain
28	chr11:36472000-36475400	Weak transcription	NHDF-Ad	bronchial
29	chr11:36472000-36475600	Weak transcription	NHLF	lung
30	chr11:36472000-36475800	Enhancers	Thymus	Thymus
31	chr11:36472000-36476400	Weak transcription	Fetal Brain Female	brain
32	chr11:36472000-36477800	Enhancers	Fetal Lung	lung
33	chr11:36472200-36475400	Enhancers	Primary T helper cells fromperipheralblood	blood
34	chr11:36472200-36475600	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr11:36472200-36475600	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr11:36472200-36475800	Enhancers	Primary T cells from cord blood	blood
37	chr11:36472200-36475800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr11:36472400-36475400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
39	chr11:36472600-36475200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:36472600-36475200	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr11:36472600-36475200	Weak transcription	GM12878-XiMat	blood
42	chr11:36472600-36477600	Weak transcription	Colon Smooth Muscle	Colon
43	chr11:36472800-36475200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:36472800-36475200	Weak transcription	Lung	lung
45	chr11:36472800-36476000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr11:36473000-36475400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:36473000-36488000	Weak transcription	Liver	Liver
48	chr11:36473200-36475200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:36473200-36475200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr11:36473200-36478200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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