Variant report

Variant	rs74074961
Chromosome Location	chr13:49146191-49146192
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49145648..49148059-chr13:49151703..49153220,2	K562	blood:

Variant related genes	Relation type
ENSG00000233610	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9331977	1.00[AMR][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	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49135000-49155000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr13:49137200-49153000	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:49140800-49146400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr13:49141200-49147000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:49141400-49146200	Enhancers	HepG2	liver
6	chr13:49141400-49146400	Enhancers	Fetal Lung	lung
7	chr13:49141400-49146600	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr13:49141800-49150200	Weak transcription	Aorta	Aorta
9	chr13:49142400-49148800	Enhancers	Fetal Thymus	thymus
10	chr13:49143000-49153600	Weak transcription	Liver	Liver
11	chr13:49143600-49147800	Enhancers	Fetal Muscle Trunk	muscle
12	chr13:49143600-49148800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr13:49144000-49146200	Enhancers	Primary T cells fromperipheralblood	blood
14	chr13:49144000-49147800	Enhancers	Primary hematopoietic stem cells	blood
15	chr13:49144000-49151400	Weak transcription	Lung	lung
16	chr13:49144400-49146200	Bivalent Enhancer	Primary B cells from cord blood	blood
17	chr13:49144400-49146200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr13:49144400-49146200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr13:49144600-49146200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr13:49144600-49146200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:49144800-49146200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr13:49144800-49146400	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr13:49144800-49153000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr13:49145000-49146200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr13:49145000-49150800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr13:49145200-49146200	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr13:49145200-49146400	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr13:49145400-49146200	Enhancers	Primary T cells from cord blood	blood
29	chr13:49145400-49146200	Enhancers	Brain Anterior Caudate	brain
30	chr13:49145400-49146200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr13:49145400-49146400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr13:49145400-49146400	Enhancers	Brain Substantia Nigra	brain
33	chr13:49145400-49146400	Flanking Active TSS	HSMMtube	muscle
34	chr13:49145400-49147400	Weak transcription	Esophagus	oesophagus
35	chr13:49145600-49146200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr13:49145600-49146200	Enhancers	Fetal Heart	heart
37	chr13:49145600-49146200	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr13:49145600-49146200	Flanking Active TSS	GM12878-XiMat	blood
39	chr13:49145600-49146400	Flanking Active TSS	Dnd41	blood
40	chr13:49145800-49146200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:49145800-49146600	Weak transcription	Fetal Stomach	stomach
42	chr13:49145800-49147200	Weak transcription	HUVEC	blood vessel
43	chr13:49145800-49152800	Weak transcription	Placenta	Placenta
44	chr13:49146000-49146200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr13:49146000-49146200	Enhancers	NHLF	lung
46	chr13:49146000-49146400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr13:49146000-49146400	Enhancers	Muscle Satellite Cultured Cells	--
48	chr13:49146000-49146400	Enhancers	Brain Hippocampus Middle	brain
49	chr13:49146000-49146400	Enhancers	Colon Smooth Muscle	Colon
50	chr13:49146000-49146400	Enhancers	Duodenum Smooth Muscle	Duodenum

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