Variant report

Variant	rs16890918
Chromosome Location	chr6:80379101-80379102
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:80246210..80248079-chr6:80378747..80381215,2	K562	blood:

Variant related genes	Relation type
ENSG00000135338	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs16890942	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58544915	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58671143	1.00[AMR][1000 genomes]
rs59911718	1.00[AMR][1000 genomes]
rs60835901	1.00[AMR][1000 genomes]

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	nsv1028607	chr6:79853272-80767716	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh 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	43 gene(s)	inside rSNPs	diseases
2	nsv1018318	chr6:80241029-80465282	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv1032347	chr6:80284809-80694778	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr6:80366200-80384000	Weak transcription	Brain Germinal Matrix	brain
2	chr6:80366400-80380600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:80372600-80382600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
4	chr6:80373400-80412400	Weak transcription	Fetal Brain Male	brain
5	chr6:80374000-80379800	Weak transcription	Colonic Mucosa	Colon
6	chr6:80374000-80381200	Weak transcription	Brain Anterior Caudate	brain
7	chr6:80374000-80381600	Weak transcription	Fetal Brain Female	brain
8	chr6:80374400-80380600	Weak transcription	K562	blood
9	chr6:80374400-80381400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr6:80374400-80381400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:80374400-80381400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr6:80374400-80383600	Weak transcription	Right Ventricle	heart
13	chr6:80374400-80386800	Weak transcription	Right Atrium	heart
14	chr6:80375800-80383600	Weak transcription	Fetal Kidney	kidney
15	chr6:80376000-80379600	Weak transcription	HUVEC	blood vessel
16	chr6:80376000-80381400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr6:80376000-80385000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr6:80376200-80380600	Weak transcription	Gastric	stomach
19	chr6:80376200-80380600	Weak transcription	Pancreas	Pancrea
20	chr6:80376200-80380600	Weak transcription	Psoas Muscle	Psoas
21	chr6:80376200-80380600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr6:80376200-80380800	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:80376200-80381200	Weak transcription	Brain Hippocampus Middle	brain
24	chr6:80376200-80381400	Weak transcription	HSMM	muscle
25	chr6:80376200-80384200	Weak transcription	Brain Angular Gyrus	brain
26	chr6:80376400-80381000	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:80376400-80381400	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr6:80376400-80396200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr6:80376400-80402000	Weak transcription	Brain Substantia Nigra	brain
30	chr6:80376600-80379800	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr6:80376600-80383200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:80377000-80385800	Weak transcription	Fetal Muscle Leg	muscle
33	chr6:80377200-80379400	Weak transcription	Fetal Stomach	stomach
34	chr6:80377200-80380600	Weak transcription	Primary T cells from cord blood	blood
35	chr6:80377800-80382800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr6:80378000-80381000	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr6:80378000-80394400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr6:80378200-80379600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr6:80378200-80380400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr6:80378200-80380400	Weak transcription	Small Intestine	intestine
41	chr6:80378200-80380600	Weak transcription	Placenta	Placenta
42	chr6:80378200-80381400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr6:80378200-80382400	Enhancers	Fetal Lung	lung
44	chr6:80378200-80383000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr6:80378200-80385600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:80378200-80387000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr6:80378200-80396000	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr6:80378200-80405000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr6:80378400-80379400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr6:80378400-80379400	Weak transcription	Liver	Liver

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