Variant report

Variant	rs12323317
Chromosome Location	chr13:49158592-49158593
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs9316402	1.00[AFR][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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49147600-49160800	Weak transcription	Thymus	Thymus
2	chr13:49148400-49159000	Weak transcription	Pancreas	Pancrea
3	chr13:49148400-49160600	Weak transcription	Fetal Muscle Trunk	muscle
4	chr13:49150600-49159400	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:49154000-49158800	Weak transcription	Right Atrium	heart
6	chr13:49154000-49159000	Weak transcription	Colonic Mucosa	Colon
7	chr13:49154000-49159000	Weak transcription	Esophagus	oesophagus
8	chr13:49154000-49159000	Weak transcription	Left Ventricle	heart
9	chr13:49154000-49159000	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr13:49154000-49159000	Weak transcription	Spleen	Spleen
11	chr13:49154000-49159200	Weak transcription	Placenta	Placenta
12	chr13:49154200-49158600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr13:49154200-49159000	Weak transcription	NHEK	skin
14	chr13:49154200-49159400	Weak transcription	Fetal Thymus	thymus
15	chr13:49154200-49160800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr13:49154200-49160800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:49154400-49158800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr13:49154400-49160200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr13:49154600-49159400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr13:49154800-49158800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr13:49154800-49158800	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr13:49154800-49159000	Weak transcription	Small Intestine	intestine
23	chr13:49154800-49159400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr13:49154800-49159600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr13:49154800-49160400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr13:49154800-49160400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:49154800-49160800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr13:49155000-49158600	Weak transcription	Brain Anterior Caudate	brain
29	chr13:49155000-49158600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr13:49155000-49158600	Weak transcription	Stomach Mucosa	stomach
31	chr13:49155000-49158800	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr13:49155000-49159600	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr13:49155000-49160200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr13:49155200-49158600	Weak transcription	Brain Hippocampus Middle	brain
35	chr13:49156000-49161400	Enhancers	HepG2	liver
36	chr13:49156400-49158800	Weak transcription	Right Ventricle	heart
37	chr13:49156400-49161400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:49157400-49161200	Enhancers	HSMMtube	muscle
39	chr13:49157600-49164800	Weak transcription	Gastric	stomach
40	chr13:49157800-49158600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr13:49157800-49161200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:49158000-49161400	Enhancers	Colon Smooth Muscle	Colon
43	chr13:49158000-49161600	Enhancers	HMEC	breast
44	chr13:49158000-49161600	Enhancers	HUVEC	blood vessel
45	chr13:49158200-49158600	Weak transcription	Adipose Nuclei	Adipose
46	chr13:49158200-49158600	Weak transcription	Fetal Muscle Leg	muscle
47	chr13:49158200-49159000	Enhancers	Brain Substantia Nigra	brain
48	chr13:49158200-49161000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr13:49158200-49161000	Enhancers	Osteobl	bone
50	chr13:49158200-49161400	Enhancers	Cortex derived primary cultured neurospheres	brain

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