Variant report

Variant	rs16883994
Chromosome Location	chr6:74347951-74347952
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:74347271..74350494-chr6:74353377..74356232,3	K562	blood:
2	chr6:74346702..74349143-chr6:74362515..74365151,2	MCF-7	breast:
3	chr6:74219254..74222959-chr6:74347111..74349856,3	K562	blood:
4	chr6:74346439..74348831-chr6:74363513..74366068,2	K562	blood:
5	chr6:74228585..74234219-chr6:74347721..74351601,8	MCF-7	breast:
6	chr6:74229310..74230812-chr6:74347682..74350377,2	MCF-7	breast:
7	chr6:74347373..74350038-chr6:74360167..74362055,2	K562	blood:
8	chr6:74346879..74348576-chr6:74350404..74352276,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000156508	Chromatin interaction
ENSG00000119899	Chromatin interaction
ENSG00000229862	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs16883930	0.86[CHB][hapmap];0.91[MKK][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs482029	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3410973	chr6:73716033-74419545	Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv886158	chr6:74126084-74436825	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
3	nsv1027968	chr6:74155378-74521923	Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	nsv538305	chr6:74155378-74521923	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv1017716	chr6:74173173-74401162	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
6	nsv1023250	chr6:74189642-74605976	Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	172 gene(s)	inside rSNPs	diseases
7	nsv538306	chr6:74189642-74605976	Strong transcription Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	172 gene(s)	inside rSNPs	diseases
8	nsv603694	chr6:74275405-74365807	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
9	nsv1029927	chr6:74300496-74424355	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	nsv1027691	chr6:74302980-74417450	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74296400-74354800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr6:74296400-74354800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr6:74296400-74355000	Weak transcription	Fetal Brain Male	brain
4	chr6:74297000-74361800	Weak transcription	GM12878-XiMat	blood
5	chr6:74303400-74355000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr6:74307200-74362400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr6:74307600-74356400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:74311200-74355000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr6:74314200-74362800	Weak transcription	Stomach Mucosa	stomach
10	chr6:74315200-74348800	Weak transcription	HMEC	breast
11	chr6:74315600-74362800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:74316400-74349200	Weak transcription	HUVEC	blood vessel
13	chr6:74316600-74355000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:74318400-74350000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:74318400-74355000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr6:74318800-74355200	Weak transcription	Colonic Mucosa	Colon
17	chr6:74319600-74354800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:74319800-74354800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:74324600-74362800	Weak transcription	Pancreas	Pancrea
20	chr6:74324800-74361600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr6:74325000-74348800	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr6:74325000-74349400	Weak transcription	Rectal Smooth Muscle	rectum
23	chr6:74325000-74354800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr6:74325000-74355200	Weak transcription	HSMM	muscle
25	chr6:74325200-74355000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:74325400-74362800	Weak transcription	Small Intestine	intestine
27	chr6:74328600-74350000	Weak transcription	Fetal Heart	heart
28	chr6:74333600-74348200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:74334000-74353000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:74335200-74352400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:74335600-74352000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr6:74335600-74352600	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr6:74336800-74352200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr6:74336800-74352600	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr6:74337000-74350400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr6:74337000-74352400	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr6:74337200-74352800	Strong transcription	Fetal Intestine Large	intestine
38	chr6:74337400-74352600	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr6:74337600-74352000	Strong transcription	Primary T helper cells fromperipheralblood	blood
40	chr6:74337800-74349600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr6:74338400-74350200	Weak transcription	Right Ventricle	heart
42	chr6:74339200-74362800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr6:74340000-74349600	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:74340200-74348600	Strong transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:74341000-74355000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:74341400-74355000	Weak transcription	Aorta	Aorta
47	chr6:74341400-74355000	Weak transcription	Ovary	ovary
48	chr6:74341400-74360400	Weak transcription	HepG2	liver
49	chr6:74341600-74352000	Weak transcription	Brain Hippocampus Middle	brain
50	chr6:74341600-74362800	Weak transcription	Esophagus	oesophagus

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