Variant report

Variant	rs13225119
Chromosome Location	chr7:6618652-6618653
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:6615537..6618663-chr7:6638717..6641799,3	K562	blood:
2	chr7:6617184..6619983-chr7:6640766..6643695,2	MCF-7	breast:
3	chr7:6615687..6618664-chr7:6627812..6632591,8	MCF-7	breast:
4	chr7:6614342..6622557-chr7:6625132..6631922,18	K562	blood:
5	chr7:6615703..6619364-chr7:6676501..6679314,4	K562	blood:

Variant related genes	Relation type
ENSG00000205903	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000232581	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs12702528	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13222970	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13225983	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13228703	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13241728	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13246348	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13247512	0.85[EUR][1000 genomes]
rs1806552	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2243563	0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2462655	0.83[EUR][1000 genomes]
rs34639723	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36100194	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4336516	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4720679	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4724820	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4724826	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4724827	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55752654	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55774400	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55931882	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs55934539	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56307819	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73059401	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7785098	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7795522	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
9	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
10	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv508444	chr7:6534110-6700527	Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	nsv1025220	chr7:6534278-6736802	Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
13	nsv538717	chr7:6534278-6736802	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
14	nsv887431	chr7:6535517-6690240	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
15	nsv515978	chr7:6535517-6698905	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
16	nsv887432	chr7:6535517-6713985	Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
17	nsv887433	chr7:6557135-6668027	Enhancers ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv887434	chr7:6557135-6713985	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
19	nsv606001	chr7:6563109-6683454	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
20	nsv606002	chr7:6567114-6713985	Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
21	nsv887435	chr7:6613604-6713985	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
22	nsv824002	chr7:6618087-6716961	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 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	chr7:6617600-6619000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr7:6617600-6619800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:6617600-6619800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr7:6617600-6620000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr7:6617600-6620200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:6617600-6620200	Weak transcription	Aorta	Aorta
7	chr7:6617600-6620200	Weak transcription	Brain Angular Gyrus	brain
8	chr7:6617600-6620200	Weak transcription	Ovary	ovary
9	chr7:6617600-6620200	Weak transcription	Osteobl	bone
10	chr7:6617600-6620400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr7:6617600-6620600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:6617600-6620800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:6617600-6621200	Weak transcription	NHDF-Ad	bronchial
14	chr7:6617600-6621400	Weak transcription	HSMMtube	muscle
15	chr7:6617600-6621600	Weak transcription	HMEC	breast
16	chr7:6617600-6622400	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr7:6617600-6624200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:6617600-6624400	Weak transcription	HUVEC	blood vessel
19	chr7:6617600-6629200	Weak transcription	Small Intestine	intestine
20	chr7:6617600-6629600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:6617600-6629800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:6617600-6630000	Weak transcription	Stomach Mucosa	stomach
23	chr7:6617800-6618800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr7:6617800-6619000	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr7:6617800-6619000	Weak transcription	Brain Anterior Caudate	brain
26	chr7:6617800-6619200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:6617800-6620000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr7:6617800-6620000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr7:6617800-6620000	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr7:6617800-6620000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:6617800-6620200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr7:6617800-6620200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:6617800-6620200	Weak transcription	Brain Substantia Nigra	brain
34	chr7:6617800-6620200	Weak transcription	Gastric	stomach
35	chr7:6617800-6620200	Weak transcription	Lung	lung
36	chr7:6617800-6620200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr7:6617800-6620200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:6617800-6620400	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr7:6617800-6620400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr7:6617800-6620400	Weak transcription	Fetal Lung	lung
41	chr7:6617800-6621000	Weak transcription	Fetal Kidney	kidney
42	chr7:6617800-6621400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:6617800-6621800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:6617800-6623000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr7:6617800-6623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr7:6617800-6629000	Weak transcription	Right Atrium	heart
47	chr7:6617800-6629200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr7:6618000-6619000	Weak transcription	Thymus	Thymus
49	chr7:6618000-6619600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:6618000-6619800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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