Variant report

Variant	rs7102330
Chromosome Location	chr11:46364604-46364605
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46363651..46365755-chr11:46366782..46368942,2	K562	blood:
2	chr11:46257890..46267047-chr11:46362753..46375455,17	K562	blood:
3	chr11:46362000..46364910-chr11:46370299..46373076,2	K562	blood:
4	chr11:46364302..46366934-chr11:46366940..46368898,2	K562	blood:

Variant related genes	Relation type
ENSG00000254639	Chromatin interaction
ENSG00000149091	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11038863	0.86[ASN][1000 genomes]
rs11038922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11038935	1.00[AFR][1000 genomes]
rs2303435	0.81[ASN][1000 genomes]
rs61882671	0.86[ASN][1000 genomes]
rs61882672	0.86[ASN][1000 genomes]
rs61885566	0.81[ASN][1000 genomes]
rs6485676	0.86[ASN][1000 genomes]
rs7924718	0.81[ASN][1000 genomes]
rs9988792	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46356400-46366400	Enhancers	Primary T helper cells PMA-I stimulated	--
2	chr11:46356400-46366600	Enhancers	Fetal Thymus	thymus
3	chr11:46357400-46366400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr11:46358800-46366400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr11:46359200-46365800	Enhancers	Primary T helper naive cells from peripheral blood	blood
6	chr11:46359400-46366600	Enhancers	Primary hematopoietic stem cells	blood
7	chr11:46360800-46366400	Weak transcription	Brain Substantia Nigra	brain
8	chr11:46360800-46366600	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr11:46360800-46367000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr11:46360800-46368000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr11:46361000-46365000	Weak transcription	A549	lung
12	chr11:46361000-46366600	Enhancers	Placenta	Placenta
13	chr11:46361200-46365000	Weak transcription	NHEK	skin
14	chr11:46361200-46365200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr11:46361200-46365800	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr11:46361200-46366400	Enhancers	Adipose Nuclei	Adipose
17	chr11:46361200-46366400	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr11:46361400-46365400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr11:46361400-46366400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:46361400-46366400	Weak transcription	Esophagus	oesophagus
21	chr11:46361400-46366600	Enhancers	Primary T cells fromperipheralblood	blood
22	chr11:46361400-46367000	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr11:46361400-46367400	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr11:46361400-46367800	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr11:46361600-46365800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:46361600-46367000	Weak transcription	Colon Smooth Muscle	Colon
27	chr11:46361800-46365200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr11:46361800-46367000	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr11:46362000-46364800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr11:46362000-46366400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr11:46362000-46367200	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr11:46362000-46368600	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr11:46362200-46366600	Weak transcription	Psoas Muscle	Psoas
34	chr11:46363000-46365400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr11:46363000-46366600	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr11:46363000-46367200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr11:46363200-46365200	Enhancers	Brain Inferior Temporal Lobe	brain
38	chr11:46363200-46365400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
39	chr11:46363200-46365600	Enhancers	Fetal Stomach	stomach
40	chr11:46363200-46365800	Enhancers	Primary B cells from cord blood	blood
41	chr11:46363200-46365800	Enhancers	Lung	lung
42	chr11:46363200-46366000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:46363200-46366600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr11:46363200-46366600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr11:46363200-46367000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr11:46363200-46367200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:46363200-46368600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:46363400-46365400	Enhancers	Brain Hippocampus Middle	brain
49	chr11:46363400-46365600	Enhancers	Fetal Lung	lung
50	chr11:46363400-46366000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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