Variant report

Variant	rs73335341
Chromosome Location	chr7:7220786-7220787
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	IRF1	chr7:7220504-7220881	K562	blood:	n/a	chr7:7220751-7220765 chr7:7220750-7220763 chr7:7220750-7220764 chr7:7220750-7220763 chr7:7220754-7220768 chr7:7220749-7220769 chr7:7220750-7220763
2	HEY1	chr7:7220755-7223351	HepG2	liver:	n/a	chr7:7222777-7222792 chr7:7222143-7222158 chr7:7222776-7222791
3	ARID3A	chr7:7220771-7220915	HepG2	liver:	n/a	n/a
4	POLR2A	chr7:7220750-7221004	HepG2	liver:	n/a	n/a
5	CEBPB	chr7:7220660-7222551	HepG2	liver:	n/a	chr7:7221154-7221167
6	CEBPB	chr7:7220746-7220939	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr7:7220715-7222385	A549	lung:	n/a	chr7:7221154-7221167
8	POLR2A	chr7:7220762-7223773	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr7:7220701-7223154	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:7220725-7223300	HepG2	liver:	n/a	n/a
11	STAT3	chr7:7220749-7220963	MCF10A-Er-Src	breast:	n/a	n/a
12	CEBPB	chr7:7220691-7222625	Hela-S3	cervix:	n/a	chr7:7221154-7221167
13	IRF1	chr7:7220626-7220886	K562	blood:	n/a	chr7:7220751-7220765 chr7:7220750-7220763 chr7:7220750-7220764 chr7:7220750-7220763 chr7:7220754-7220768 chr7:7220749-7220769 chr7:7220750-7220763

No.	Distal block	Cell Line	Cell type
1	chr7:7220051..7223731-chr7:7605300..7608795,5	K562	blood:
2	chr7:7138712..7144572-chr7:7219459..7223789,7	K562	blood:
3	chr7:7220227..7222107-chr7:7381152..7382805,2	MCF-7	breast:
4	chr7:7220424..7222400-chr7:7606398..7608085,2	K562	blood:
5	chr7:7213763..7219997-chr7:7220116..7223880,12	MCF-7	breast:
6	chr7:7138294..7142693-chr7:7219176..7223789,9	K562	blood:

Variant related genes	Relation type
C1GALT1	TF binding region
ENSG00000272894	Chromatin interaction
ENSG00000201218	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000244167	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10226438	1.00[EUR][1000 genomes]
rs10240750	1.00[EUR][1000 genomes]
rs10246194	1.00[EUR][1000 genomes]
rs10246299	1.00[EUR][1000 genomes]
rs10246843	1.00[EUR][1000 genomes]
rs10251676	1.00[EUR][1000 genomes]
rs10255843	1.00[EUR][1000 genomes]
rs10260209	1.00[EUR][1000 genomes]
rs10267375	1.00[EUR][1000 genomes]
rs10276239	1.00[EUR][1000 genomes]
rs11976941	1.00[EUR][1000 genomes]
rs11980424	1.00[EUR][1000 genomes]
rs11982566	1.00[EUR][1000 genomes]
rs13437710	1.00[EUR][1000 genomes]
rs13437711	1.00[EUR][1000 genomes]
rs1368052	1.00[EUR][1000 genomes]
rs2190934	1.00[EUR][1000 genomes]
rs28410769	1.00[EUR][1000 genomes]
rs28421078	1.00[EUR][1000 genomes]
rs28588056	1.00[EUR][1000 genomes]
rs28872550	1.00[EUR][1000 genomes]
rs59821522	1.00[EUR][1000 genomes]
rs73337351	1.00[EUR][1000 genomes]
rs73674616	1.00[EUR][1000 genomes]
rs73674617	1.00[EUR][1000 genomes]
rs73674623	1.00[EUR][1000 genomes]
rs73674624	1.00[EUR][1000 genomes]
rs73674625	1.00[EUR][1000 genomes]
rs73674631	1.00[EUR][1000 genomes]
rs73674632	1.00[EUR][1000 genomes]
rs73674633	1.00[EUR][1000 genomes]
rs7784313	1.00[EUR][1000 genomes]
rs7788265	1.00[EUR][1000 genomes]
rs7790391	1.00[EUR][1000 genomes]
rs7804767	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
5	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
8	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
9	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
10	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
11	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
12	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
13	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv1032974	chr7:7145831-7393218	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
17	nsv508445	chr7:7190518-7261098	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
18	esv2758102	chr7:7209911-7493901	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
19	esv2759505	chr7:7209911-7493901	Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7205800-7220800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:7205800-7220800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:7212800-7220800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:7213600-7220800	Enhancers	HMEC	breast
5	chr7:7216000-7220800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr7:7216800-7220800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr7:7216800-7220800	Weak transcription	Adipose Nuclei	Adipose
8	chr7:7216800-7221000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr7:7216800-7221200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:7217000-7220800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:7217000-7220800	Weak transcription	Small Intestine	intestine
12	chr7:7217000-7221000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:7217000-7221000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:7217200-7220800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:7217200-7220800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:7217200-7220800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr7:7217200-7221200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:7217400-7220800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:7217400-7220800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:7217400-7220800	Weak transcription	Fetal Kidney	kidney
21	chr7:7217600-7220800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:7217600-7220800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:7217600-7220800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:7217600-7220800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:7217600-7220800	Weak transcription	Stomach Mucosa	stomach
26	chr7:7217600-7220800	Enhancers	HepG2	liver
27	chr7:7217600-7221000	Weak transcription	NH-A	brain
28	chr7:7217800-7220800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr7:7217800-7220800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:7217800-7220800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr7:7217800-7220800	Weak transcription	HUVEC	blood vessel
32	chr7:7217800-7221200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:7218800-7220800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:7218800-7220800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr7:7218800-7220800	Weak transcription	Placenta	Placenta
36	chr7:7218800-7220800	Weak transcription	Hela-S3	cervix
37	chr7:7218800-7220800	Weak transcription	NHDF-Ad	bronchial
38	chr7:7218800-7220800	Weak transcription	NHLF	lung
39	chr7:7218800-7221000	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr7:7219000-7220800	Weak transcription	Psoas Muscle	Psoas
41	chr7:7219800-7220800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr7:7219800-7220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:7219800-7220800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr7:7219800-7220800	Enhancers	K562	blood
45	chr7:7220200-7220800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:7220200-7221000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:7220400-7220800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr7:7220400-7220800	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr7:7220400-7220800	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr7:7220400-7220800	Enhancers	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links