Variant report

Variant	rs16873056
Chromosome Location	chr6:44982145-44982146
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	chr6:44974489..44977160-chr6:44980461..44983338,2	K562	blood:

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10080909	0.81[EUR][1000 genomes]
rs10498757	1.00[ASN][1000 genomes]
rs13436998	0.88[AFR][1000 genomes]
rs16872751	0.88[YRI][hapmap];0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs16873073	0.82[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873103	0.82[CEU][hapmap];0.94[YRI][hapmap];0.89[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16873150	0.93[YRI][hapmap];0.85[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs16873215	0.82[CEU][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs2396374	0.82[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28843161	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59606274	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6912535	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6925770	0.82[CEU][hapmap];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73438898	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73441120	0.83[AFR][1000 genomes]
rs73441122	0.83[AFR][1000 genomes]
rs73441130	0.81[AFR][1000 genomes]
rs73442933	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73443219	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73443229	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73443286	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs73444966	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73444983	0.90[AFR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73447073	1.00[ASN][1000 genomes]
rs73447433	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73448343	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73451303	0.80[EUR][1000 genomes]
rs7742332	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs7749796	0.82[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7751298	0.82[CEU][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7762957	0.82[CEU][hapmap]
rs7768241	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296447	0.88[YRI][hapmap];0.99[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9296450	0.94[YRI][hapmap]
rs9296451	0.82[CEU][hapmap];0.80[EUR][1000 genomes]
rs9463046	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9463053	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9463056	0.82[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9463058	0.82[CEU][hapmap];0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9463066	0.82[CEU][hapmap]
rs9463071	0.80[EUR][1000 genomes]
rs9472372	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472373	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472374	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472375	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472379	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472381	0.88[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472384	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9472390	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472391	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472393	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472394	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472395	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472412	0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472413	0.82[CEU][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472414	0.94[YRI][hapmap];0.82[AFR][1000 genomes]
rs9472421	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472424	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472427	0.82[CEU][hapmap];0.94[YRI][hapmap]
rs9472433	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs9472434	1.00[ASN][1000 genomes]
rs9472435	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472436	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472438	0.82[CEU][hapmap]
rs9885623	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv885861	chr6:44837356-45043618	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv1028393	chr6:44875558-45822335	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv538211	chr6:44875558-45822335	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1024370	chr6:44878053-45251451	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	esv2758051	chr6:44879791-45056758	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	esv2759423	chr6:44879791-45056758	ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv885862	chr6:44890760-45083966	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv885863	chr6:44890760-45083966	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
9	nsv885864	chr6:44890760-45198796	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	nsv462938	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv470817	chr6:44909515-45008779	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
12	nsv603007	chr6:44909515-45008779	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1023018	chr6:44925393-45152912	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv538212	chr6:44925393-45152912	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	esv2757164	chr6:44953758-44989519	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
16	nsv603008	chr6:44958372-45081821	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44964600-44983600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:44965800-44983400	Weak transcription	Primary B cells from cord blood	blood
3	chr6:44966400-44993600	Weak transcription	HepG2	liver
4	chr6:44970800-44988600	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr6:44970800-44989000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr6:44971400-44988800	Weak transcription	Primary T cells from cord blood	blood
7	chr6:44972000-44983800	Weak transcription	Adipose Nuclei	Adipose
8	chr6:44974800-45004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:44975000-44983800	Weak transcription	Brain Anterior Caudate	brain
10	chr6:44977200-44988800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr6:44977600-44993800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr6:44978200-44982800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr6:44978600-44982600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr6:44978600-44988600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:44979000-44983200	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr6:44979000-44983400	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr6:44979000-44983600	Weak transcription	Fetal Brain Male	brain
18	chr6:44979200-44983600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:44979400-44984000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:44980000-44982200	Weak transcription	Fetal Muscle Leg	muscle
21	chr6:44980000-44982400	Weak transcription	Rectal Smooth Muscle	rectum
22	chr6:44980000-44982600	Weak transcription	Left Ventricle	heart
23	chr6:44980200-44982400	Weak transcription	Brain Substantia Nigra	brain
24	chr6:44980200-44982600	Weak transcription	Placenta	Placenta
25	chr6:44980200-44982600	Weak transcription	Fetal Thymus	thymus
26	chr6:44980400-44982200	Strong transcription	Dnd41	blood
27	chr6:44980400-44982600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:44980400-44982800	Weak transcription	Colon Smooth Muscle	Colon
29	chr6:44980600-44982200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr6:44980600-44983000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:44980600-44989000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr6:44980800-44982600	Strong transcription	Primary hematopoietic stem cells	blood
33	chr6:44980800-44983000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr6:44980800-44983600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr6:44981000-44982600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr6:44981000-44983200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:44981000-44983200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr6:44981000-44983400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:44981200-44983200	Weak transcription	Brain Angular Gyrus	brain
40	chr6:44981400-44982200	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:44981400-44983000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:44981600-44983000	Weak transcription	Ovary	ovary
43	chr6:44981600-44983200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr6:44981600-44983200	Weak transcription	Fetal Intestine Large	intestine
45	chr6:44981600-44983400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr6:44981600-44983800	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr6:44981600-44994800	Weak transcription	Aorta	Aorta
48	chr6:44981600-44994800	Weak transcription	Pancreas	Pancrea
49	chr6:44981800-44983400	Weak transcription	Stomach Smooth Muscle	stomach
50	chr6:44981800-44988200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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