Variant report

Variant	rs10499473
Chromosome Location	chr7:16733167-16733168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:16722082..16724687-chr7:16731696..16733596,2	K562	blood:
2	chr7:16685700..16688239-chr7:16731845..16734495,2	K562	blood:

Variant related genes	Relation type
ENSG00000136261	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10248469	1.00[CEU][hapmap]
rs10265402	1.00[CEU][hapmap]
rs11982578	1.00[EUR][1000 genomes]
rs1674811	1.00[EUR][1000 genomes]
rs17169590	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[EUR][1000 genomes]
rs17169591	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1722725	0.83[EUR][1000 genomes]
rs17626550	1.00[MEX][hapmap]
rs6461274	1.00[CEU][hapmap]
rs6961256	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6974411	1.00[CEU][hapmap]
rs6979312	1.00[CEU][hapmap]
rs706034	1.00[GIH][hapmap];1.00[TSI][hapmap];0.83[EUR][1000 genomes]
rs73679835	0.83[EUR][1000 genomes]
rs7780556	1.00[CEU][hapmap]
rs7790309	1.00[CEU][hapmap]
rs7805673	1.00[CEU][hapmap]
rs818496	0.83[EUR][1000 genomes]
rs818501	1.00[EUR][1000 genomes]
rs818502	1.00[EUR][1000 genomes]
rs818504	1.00[EUR][1000 genomes]
rs818506	0.83[EUR][1000 genomes]
rs818507	0.83[EUR][1000 genomes]
rs818509	0.83[EUR][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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv464397	chr7:16709708-16782767	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
6	nsv606338	chr7:16709708-16782767	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
7	nsv887760	chr7:16714974-16776257	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16686800-16734400	Weak transcription	Lung	lung
2	chr7:16697800-16734400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:16697800-16736400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:16697800-16736400	Weak transcription	Fetal Brain Male	brain
5	chr7:16701200-16734000	Weak transcription	Esophagus	oesophagus
6	chr7:16701200-16736200	Weak transcription	Pancreas	Pancrea
7	chr7:16701200-16736600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:16701800-16752800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr7:16702400-16734400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:16702600-16734400	Weak transcription	Spleen	Spleen
11	chr7:16704200-16737600	Weak transcription	Aorta	Aorta
12	chr7:16708200-16737400	Weak transcription	Brain Substantia Nigra	brain
13	chr7:16708400-16736200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:16708800-16747800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:16710200-16752400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:16712400-16737400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:16714000-16737200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr7:16714000-16741800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:16714000-16747200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr7:16714000-16748400	Strong transcription	Monocytes-CD14+_RO01746	blood
21	chr7:16715400-16736200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr7:16715800-16734400	Weak transcription	Right Ventricle	heart
23	chr7:16715800-16734600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:16716600-16735400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:16718000-16734400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr7:16719200-16741800	Strong transcription	A549	lung
27	chr7:16719200-16746800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
28	chr7:16719600-16734400	Weak transcription	Colonic Mucosa	Colon
29	chr7:16720200-16735000	Weak transcription	Fetal Kidney	kidney
30	chr7:16720200-16736600	Weak transcription	Fetal Brain Female	brain
31	chr7:16720800-16748800	Strong transcription	Placenta	Placenta
32	chr7:16722000-16737600	Weak transcription	Psoas Muscle	Psoas
33	chr7:16722200-16736400	Weak transcription	H9 Cell Line	embryonic stem cell
34	chr7:16722800-16736800	Weak transcription	Brain Angular Gyrus	brain
35	chr7:16723400-16736200	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:16723800-16734000	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:16723800-16734400	Weak transcription	Colon Smooth Muscle	Colon
38	chr7:16724000-16735400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr7:16724000-16735600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr7:16724600-16747200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr7:16725000-16736800	Strong transcription	HUVEC	blood vessel
42	chr7:16725200-16734400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr7:16725200-16739000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr7:16725200-16749000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr7:16725400-16734600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:16725400-16746000	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr7:16725400-16749400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr7:16725600-16734400	Weak transcription	Small Intestine	intestine
49	chr7:16726200-16735600	Weak transcription	HSMMtube	muscle
50	chr7:16726200-16736400	Weak transcription	Brain Anterior Caudate	brain

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