Variant report

Variant	rs10246266
Chromosome Location	chr7:6199265-6199266
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6198597..6201773-chr7:6386005..6390187,3	MCF-7	breast:
2	chr7:6199039..6200525-chr7:6362284..6363316,17	MCF-7	breast:
3	chr7:6142710..6146060-chr7:6197801..6200881,4	MCF-7	breast:
4	chr7:6198247..6199856-chr7:6202022..6204046,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178397	Chromatin interaction
ENSG00000106346	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10046499	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216107	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10225119	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10226743	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10228155	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10228389	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10228430	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229323	0.81[ASN][1000 genomes]
rs10241174	0.84[ASN][1000 genomes]
rs10242394	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10250285	0.94[ASN][1000 genomes]
rs10254689	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10255598	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255914	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10255918	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257181	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10257248	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10257654	0.88[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10257971	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10261466	0.90[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs10275021	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10279137	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10280585	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs10282278	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11768047	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11770730	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs12667323	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12667392	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13437890	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17136048	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28385378	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28575447	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs28589289	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs28758696	0.88[EUR][1000 genomes]
rs28880007	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs34123833	0.94[ASN][1000 genomes]
rs60892137	0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61750868	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61753115	0.93[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61753118	0.94[ASN][1000 genomes]
rs6944071	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6949823	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7796322	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs9655493	0.81[AFR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
3	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
5	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
7	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
8	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
9	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
10	esv1795897	chr7:6170251-6212118	Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	nsv522155	chr7:6172654-6212656	Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv530989	chr7:6176729-6438197	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
13	nsv527386	chr7:6187783-6208369	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv818475	chr7:6187783-6212656	Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
15	nsv522217	chr7:6189780-6212656	Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
16	nsv887426	chr7:6190126-6212656	Strong transcription Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
17	nsv887427	chr7:6190126-6213396	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr7:6146800-6218200	Weak transcription	Stomach Mucosa	stomach
2	chr7:6160600-6201800	Strong transcription	Fetal Thymus	thymus
3	chr7:6161400-6199600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:6161400-6202200	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr7:6164200-6199400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:6167400-6205600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr7:6172800-6202600	Strong transcription	Dnd41	blood
8	chr7:6173200-6204800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:6173800-6205000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr7:6174200-6204800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr7:6174400-6200600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr7:6174600-6202200	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:6174800-6200000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr7:6175400-6204200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:6177000-6199400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:6177600-6199600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:6177600-6202400	Strong transcription	Primary B cells from peripheral blood	blood
18	chr7:6178200-6201800	Strong transcription	Liver	Liver
19	chr7:6178200-6204600	Strong transcription	Thymus	Thymus
20	chr7:6178600-6199800	Strong transcription	H1 Cell Line	embryonic stem cell
21	chr7:6180200-6204800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr7:6181200-6199600	Strong transcription	Primary T cells from cord blood	blood
23	chr7:6181200-6205400	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr7:6181200-6211800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:6181400-6202400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr7:6181600-6199600	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr7:6182200-6199400	Strong transcription	Right Ventricle	heart
28	chr7:6182200-6199600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:6182200-6201000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr7:6182200-6202400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:6182400-6199400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:6182400-6199400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:6182400-6199400	Strong transcription	Left Ventricle	heart
34	chr7:6182400-6200200	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr7:6182400-6201600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr7:6182600-6199600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr7:6182600-6201600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr7:6183800-6205400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:6184000-6199400	Strong transcription	Lung	lung
40	chr7:6184000-6199600	Strong transcription	Fetal Stomach	stomach
41	chr7:6184000-6199800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:6184000-6200800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:6184000-6205200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr7:6184000-6218600	Strong transcription	Fetal Intestine Small	intestine
45	chr7:6184200-6205400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:6186600-6202000	Strong transcription	Duodenum Mucosa	Duodenum
47	chr7:6188600-6199400	Strong transcription	Stomach Smooth Muscle	stomach
48	chr7:6189400-6199400	Weak transcription	Fetal Brain Male	brain
49	chr7:6190000-6211200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:6190200-6200800	Weak transcription	Hela-S3	cervix

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