Variant report

Variant	rs9349272
Chromosome Location	chr6:44083747-44083748
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44076515..44082841-chr6:44082960..44087705,9	MCF-7	breast:
2	chr6:44081901..44085348-chr6:44213567..44215363,3	MCF-7	breast:
3	chr6:44083043..44086342-chr6:44189537..44193690,3	K562	blood:

Variant related genes	Relation type
ENSG00000096384	Chromatin interaction
ENSG00000112759	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10948121	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12191873	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs12199128	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12202501	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12206251	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12206795	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2064639	1.00[AFR][1000 genomes]
rs2064640	1.00[AFR][1000 genomes]
rs2092870	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2236061	1.00[AFR][1000 genomes]
rs3734695	0.87[JPT][hapmap]
rs3734696	0.97[EUR][1000 genomes]
rs3734697	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4628095	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4711764	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4711766	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4714738	0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs4714750	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714754	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4714759	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4714761	0.86[CEU][hapmap];0.94[CHB][hapmap];0.87[JPT][hapmap];0.94[ASN][1000 genomes]
rs4714762	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62401766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62403189	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs877112	0.94[JPT][hapmap]
rs9349270	1.00[AFR][1000 genomes]
rs9349271	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9349275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9357432	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9369448	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9369449	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369450	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9369453	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9369454	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9369456	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9369457	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9369458	0.87[JPT][hapmap]
rs9369459	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9381287	0.82[CHB][hapmap];1.00[AFR][1000 genomes]
rs9381294	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9394984	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44058800-44093600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:44066000-44091000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:44067000-44084200	Strong transcription	Brain Germinal Matrix	brain
4	chr6:44067000-44084400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:44067200-44085000	Strong transcription	Dnd41	blood
6	chr6:44070400-44084000	Strong transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:44070600-44084000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:44070800-44084200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr6:44071000-44084600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr6:44071200-44084200	Strong transcription	Fetal Brain Female	brain
11	chr6:44071200-44084600	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:44071200-44084600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr6:44071200-44086400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:44071400-44083800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr6:44071400-44083800	Strong transcription	Primary T cells from cord blood	blood
16	chr6:44071400-44084400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr6:44071400-44084400	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr6:44071600-44084000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:44071600-44084200	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:44071600-44084400	Strong transcription	GM12878-XiMat	blood
21	chr6:44071800-44084000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr6:44071800-44084400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:44073200-44084400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
24	chr6:44073800-44083800	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr6:44073800-44084000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:44074000-44086600	Strong transcription	Fetal Stomach	stomach
27	chr6:44074600-44084200	Strong transcription	Stomach Smooth Muscle	stomach
28	chr6:44074600-44084200	Strong transcription	Hela-S3	cervix
29	chr6:44074800-44084200	Strong transcription	H9 Cell Line	embryonic stem cell
30	chr6:44075000-44083800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr6:44075800-44083800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:44075800-44084400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr6:44075800-44084600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr6:44076000-44083800	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr6:44076000-44084800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:44077200-44084000	Strong transcription	Colonic Mucosa	Colon
37	chr6:44077200-44084000	Strong transcription	Rectal Smooth Muscle	rectum
38	chr6:44077800-44086200	Genic enhancers	HepG2	liver
39	chr6:44078400-44085000	Weak transcription	Right Atrium	heart
40	chr6:44078600-44084600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:44079600-44084400	Weak transcription	Small Intestine	intestine
42	chr6:44081200-44084000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:44081400-44084400	Genic enhancers	Placenta	Placenta
44	chr6:44081600-44084000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr6:44081800-44083800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr6:44081800-44083800	Genic enhancers	NHEK	skin
47	chr6:44081800-44084000	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr6:44081800-44084200	Strong transcription	Fetal Muscle Trunk	muscle
49	chr6:44081800-44085400	Enhancers	Placenta Amnion	Placenta Amnion
50	chr6:44081800-44087400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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