Variant report

Variant	rs59985115
Chromosome Location	chr11:68324987-68324988
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	POLR2A	chr11:68324892-68325126	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:68324817-68325007	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:68324963..68327580-chr11:68329924..68332655,2	K562	blood:

Variant related genes	Relation type
PPP6R3	TF binding region
ENSG00000110075	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs35146965	1.00[AFR][1000 genomes]
rs61063428	0.83[AFR][1000 genomes]
rs73504499	0.83[AFR][1000 genomes]
rs73516824	0.83[AFR][1000 genomes]
rs73516827	0.83[AFR][1000 genomes]
rs73516857	0.83[AFR][1000 genomes]
rs73516871	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
9	nsv430403	chr11:68297201-68448324	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv372	chr11:68311070-68340142	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68277600-68336000	Strong transcription	Dnd41	blood
2	chr11:68283000-68358200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:68299200-68384000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:68304000-68384400	Strong transcription	Rectal Mucosa Donor 29	rectum
5	chr11:68307400-68326600	Weak transcription	Fetal Brain Male	brain
6	chr11:68307600-68338800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr11:68308800-68327200	Strong transcription	Hela-S3	cervix
8	chr11:68309400-68384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:68309800-68334400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr11:68310400-68347800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr11:68312000-68326000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr11:68313400-68356200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:68314000-68331800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr11:68314000-68347200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr11:68314000-68348000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr11:68314200-68341600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:68314200-68351400	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr11:68314400-68328000	Weak transcription	NH-A	brain
19	chr11:68315000-68325000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:68315000-68327000	Strong transcription	A549	lung
21	chr11:68316000-68332800	Weak transcription	Gastric	stomach
22	chr11:68317000-68332800	Weak transcription	Right Atrium	heart
23	chr11:68317000-68384200	Strong transcription	Fetal Muscle Trunk	muscle
24	chr11:68317200-68332200	Weak transcription	Brain Germinal Matrix	brain
25	chr11:68317200-68350200	Strong transcription	Fetal Intestine Large	intestine
26	chr11:68317400-68329800	Weak transcription	Psoas Muscle	Psoas
27	chr11:68317400-68331600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:68317400-68349600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr11:68317600-68383600	Strong transcription	Placenta	Placenta
30	chr11:68317800-68326400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:68317800-68341200	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr11:68318000-68332400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:68318000-68336600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr11:68318000-68351400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr11:68318000-68383800	Strong transcription	Fetal Thymus	thymus
36	chr11:68318000-68384000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr11:68318200-68326400	Weak transcription	Small Intestine	intestine
38	chr11:68318200-68384200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr11:68318400-68330800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr11:68318600-68331800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr11:68318600-68336200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr11:68318600-68336600	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:68318600-68338600	Weak transcription	Colon Smooth Muscle	Colon
44	chr11:68318600-68341600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr11:68318600-68384600	Strong transcription	Primary B cells from cord blood	blood
46	chr11:68319000-68325600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:68319000-68335600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr11:68319200-68329600	Strong transcription	Adipose Nuclei	Adipose
49	chr11:68319200-68384200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr11:68319600-68325000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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