Variant report

Variant	rs324136
Chromosome Location	chr6:44275011-44275012
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:44273300..44278087-chr6:44284295..44289273,5	MCF-7	breast:
2	chr6:44223584..44225235-chr6:44274881..44277464,2	MCF-7	breast:
3	chr6:44232053..44233854-chr6:44274858..44277076,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146232	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs11571907	1.00[ASN][1000 genomes]
rs11571915	1.00[ASN][1000 genomes]
rs11571917	1.00[ASN][1000 genomes]
rs11571951	1.00[ASN][1000 genomes]
rs11571957	1.00[ASN][1000 genomes]
rs11571998	1.00[ASN][1000 genomes]
rs11572002	1.00[ASN][1000 genomes]
rs11572056	1.00[ASN][1000 genomes]
rs12193699	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1293204	1.00[ASN][1000 genomes]
rs1331293	1.00[ASN][1000 genomes]
rs1411905	1.00[ASN][1000 genomes]
rs161706	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs324141	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs324143	0.97[LWK][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs325005	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325006	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325007	0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325008	0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325009	0.81[ASW][hapmap];0.85[LWK][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325010	0.82[EUR][1000 genomes]
rs325011	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35260018	0.96[EUR][1000 genomes]
rs4308546	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4714775	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4714778	1.00[ASN][1000 genomes]
rs482336	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs484757	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs505617	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs511088	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534416	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541668	0.83[AMR][1000 genomes]
rs567192	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs568902	0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61462867	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs650075	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6927345	1.00[ASN][1000 genomes]
rs7740535	0.93[ASW][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];0.86[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs865027	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9357439	0.89[AMR][1000 genomes]
rs9369483	1.00[ASN][1000 genomes]
rs9472241	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9472243	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9472244	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv462936	chr6:44191920-44282316	Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv603004	chr6:44191920-44282316	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS 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 miRNA target site	101 gene(s)	inside rSNPs	diseases
4	nsv462937	chr6:44211867-44279111	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
5	nsv603005	chr6:44211867-44279111	Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
6	esv1807818	chr6:44266574-44275011	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44265600-44279600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr6:44266000-44276600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:44266000-44277000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr6:44266000-44280000	Weak transcription	Small Intestine	intestine
5	chr6:44266200-44276400	Weak transcription	Fetal Heart	heart
6	chr6:44266200-44276800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr6:44266200-44279600	Weak transcription	Right Atrium	heart
8	chr6:44266800-44276600	Strong transcription	Fetal Intestine Small	intestine
9	chr6:44266800-44279200	Strong transcription	Brain Cingulate Gyrus	brain
10	chr6:44266800-44279800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:44267000-44275400	Weak transcription	Fetal Kidney	kidney
12	chr6:44267000-44276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:44267000-44279600	Strong transcription	Fetal Muscle Leg	muscle
14	chr6:44267000-44279800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:44267000-44279800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr6:44267200-44279400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:44267200-44279600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:44267200-44279600	Strong transcription	Fetal Thymus	thymus
19	chr6:44267200-44279800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr6:44267200-44279800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:44267400-44275400	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr6:44267400-44275600	Strong transcription	NHLF	lung
23	chr6:44267400-44276400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:44267400-44276600	Strong transcription	NHEK	skin
25	chr6:44267400-44276800	Strong transcription	Fetal Intestine Large	intestine
26	chr6:44267400-44279200	Strong transcription	Liver	Liver
27	chr6:44267400-44279400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr6:44267400-44279600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr6:44267400-44279600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr6:44267400-44280000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr6:44267400-44280000	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr6:44267600-44279200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr6:44267600-44279400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr6:44267600-44279800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:44267800-44276600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr6:44267800-44277000	Strong transcription	Duodenum Mucosa	Duodenum
37	chr6:44267800-44279800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr6:44267800-44279800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr6:44268000-44275200	Strong transcription	Aorta	Aorta
40	chr6:44268000-44275400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr6:44268000-44275400	Strong transcription	Pancreas	Pancrea
42	chr6:44268000-44275800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:44268000-44275800	Strong transcription	Osteobl	bone
44	chr6:44268000-44276000	Strong transcription	Skeletal Muscle Male	skeletal muscle
45	chr6:44268000-44276200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:44268000-44276600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:44268000-44276600	Strong transcription	Right Ventricle	heart
48	chr6:44268000-44276800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr6:44268000-44276800	Strong transcription	Left Ventricle	heart
50	chr6:44268000-44277000	Strong transcription	Rectal Mucosa Donor 31	rectum

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