Variant report

Variant	rs11616334
Chromosome Location	chr13:49866828-49866829
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49865941..49868717-chr13:49870815..49873076,2	K562	blood:
2	chr13:49857967..49860546-chr13:49866178..49867693,2	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11619052	1.00[AFR][1000 genomes]
rs17072833	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900069	chr13:49815405-49976393	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking 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	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49826600-49877800	Weak transcription	Psoas Muscle	Psoas
2	chr13:49834200-49875200	Weak transcription	Gastric	stomach
3	chr13:49834600-49867000	Weak transcription	Thymus	Thymus
4	chr13:49834800-49873000	Weak transcription	HMEC	breast
5	chr13:49834800-49875400	Weak transcription	Esophagus	oesophagus
6	chr13:49835600-49867000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr13:49835600-49867000	Weak transcription	Fetal Brain Male	brain
8	chr13:49835800-49875200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr13:49835800-49875200	Weak transcription	GM12878-XiMat	blood
10	chr13:49836600-49867000	Weak transcription	Primary B cells from cord blood	blood
11	chr13:49836600-49867000	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr13:49838600-49875400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr13:49842600-49874600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr13:49842800-49869400	Weak transcription	Lung	lung
15	chr13:49842800-49875200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr13:49842800-49875400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr13:49842800-49875400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:49848000-49873800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr13:49853200-49867000	Weak transcription	Fetal Thymus	thymus
20	chr13:49853800-49867000	Weak transcription	Brain Hippocampus Middle	brain
21	chr13:49853800-49875400	Weak transcription	Primary T cells from cord blood	blood
22	chr13:49853800-49875400	Weak transcription	Fetal Intestine Large	intestine
23	chr13:49854000-49871400	Weak transcription	Spleen	Spleen
24	chr13:49854000-49875000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr13:49854000-49875200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:49854000-49875200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr13:49854000-49877600	Weak transcription	Left Ventricle	heart
28	chr13:49854000-49883000	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr13:49855000-49875200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr13:49857200-49875200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr13:49861400-49869600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr13:49862000-49875400	Weak transcription	Primary T helper cells fromperipheralblood	blood
33	chr13:49862000-49875600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr13:49862400-49868000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr13:49863000-49872200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr13:49863200-49867000	Weak transcription	Liver	Liver
37	chr13:49863200-49875000	Weak transcription	Dnd41	blood
38	chr13:49865000-49871600	Weak transcription	Pancreas	Pancrea
39	chr13:49865800-49868400	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr13:49866400-49867600	Enhancers	Primary hematopoietic stem cells	blood
41	chr13:49866400-49867800	Enhancers	Rectal Smooth Muscle	rectum
42	chr13:49866400-49867800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr13:49866600-49867200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr13:49866600-49867200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr13:49866600-49867600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr13:49866600-49867800	Enhancers	Fetal Heart	heart
47	chr13:49866600-49868400	Enhancers	Fetal Lung	lung
48	chr13:49866600-49871400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr13:49866800-49867000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:49866800-49867000	Enhancers	Fetal Muscle Leg	muscle

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