Variant report

Variant	rs73504493
Chromosome Location	chr11:68340312-68340313
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	chr11:68233880..68236126-chr11:68339723..68341639,2	K562	blood:
2	chr11:68335057..68338909-chr11:68339810..68344152,5	K562	blood:

Variant related genes	Relation type
ENSG00000110075	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11228271	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs11228296	0.89[EUR][1000 genomes]
rs11228297	0.89[EUR][1000 genomes]
rs11512724	0.89[EUR][1000 genomes]
rs12363572	0.89[EUR][1000 genomes]
rs1996	0.89[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs2242340	0.84[EUR][1000 genomes]
rs7123591	0.88[EUR][1000 genomes]
rs73516825	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68283000-68358200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:68299200-68384000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:68304000-68384400	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr11:68309400-68384800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:68310400-68347800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:68313400-68356200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:68314000-68347200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:68314000-68348000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:68314200-68341600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr11:68314200-68351400	Strong transcription	HUES48 Cell Line	embryonic stem cell
11	chr11:68317000-68384200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr11:68317200-68350200	Strong transcription	Fetal Intestine Large	intestine
13	chr11:68317400-68349600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:68317600-68383600	Strong transcription	Placenta	Placenta
15	chr11:68317800-68341200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr11:68318000-68351400	Strong transcription	HUES6 Cell Line	embryonic stem cell
17	chr11:68318000-68383800	Strong transcription	Fetal Thymus	thymus
18	chr11:68318000-68384000	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr11:68318200-68384200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr11:68318600-68341600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr11:68318600-68384600	Strong transcription	Primary B cells from cord blood	blood
22	chr11:68319200-68384200	Strong transcription	Duodenum Mucosa	Duodenum
23	chr11:68319800-68384000	Strong transcription	Liver	Liver
24	chr11:68321000-68361800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr11:68321400-68347600	Strong transcription	HSMM	muscle
26	chr11:68323800-68342000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:68323800-68349200	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr11:68324200-68349800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr11:68324400-68362000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr11:68324600-68361600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr11:68325600-68361200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr11:68328600-68350000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:68328800-68348000	Strong transcription	Primary hematopoietic stem cells	blood
34	chr11:68328800-68348200	Strong transcription	Hela-S3	cervix
35	chr11:68328800-68362000	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr11:68328800-68380600	Strong transcription	Fetal Muscle Leg	muscle
37	chr11:68329200-68384400	Strong transcription	Rectal Mucosa Donor 31	rectum
38	chr11:68330200-68355600	Strong transcription	HepG2	liver
39	chr11:68330400-68348000	Strong transcription	Adipose Nuclei	Adipose
40	chr11:68333400-68343000	Weak transcription	Right Atrium	heart
41	chr11:68333800-68384000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr11:68333800-68384400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:68334000-68340800	Weak transcription	Psoas Muscle	Psoas
44	chr11:68334200-68347800	Strong transcription	Fetal Lung	lung
45	chr11:68334600-68341600	Strong transcription	NH-A	brain
46	chr11:68335000-68340400	Strong transcription	Rectal Smooth Muscle	rectum
47	chr11:68335000-68343400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:68335600-68343000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr11:68336000-68341200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:68336200-68340800	Weak transcription	Fetal Heart	heart

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