Variant report

Variant	rs55637396
Chromosome Location	chr7:7217867-7217868
allele	A/G
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	SIN3AK20	chr7:7217643-7218317	MCF-7	breast:	n/a	n/a
2	FOSL2	chr7:7217684-7218225	MCF-7	breast:	n/a	chr7:7218040-7218049
3	STAT3	chr7:7217812-7218153	MCF10A-Er-Src	breast:	n/a	n/a
4	GATA3	chr7:7217561-7218120	MCF-7	breast:	n/a	n/a
5	MYC	chr7:7217825-7218113	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr7:7217770-7218173	MCF10A-Er-Src	breast:	n/a	n/a
7	JUND	chr7:7217510-7218174	MCF-7	breast:	n/a	chr7:7218040-7218049
8	STAT3	chr7:7217838-7218101	MCF10A-Er-Src	breast:	n/a	n/a
9	ZNF217	chr7:7217595-7218084	MCF-7	breast:	n/a	n/a
10	GATA2	chr7:7217628-7218017	SH-SY5Y	brain:	n/a	n/a
11	GATA3	chr7:7217558-7218223	T-47D	breast:	n/a	n/a
12	FOS	chr7:7217736-7219013	MCF10A-Er-Src	breast:	n/a	chr7:7218040-7218049
13	FOS	chr7:7217783-7218159	MCF10A-Er-Src	breast:	n/a	chr7:7218040-7218049
14	NR2F2	chr7:7217524-7218132	MCF-7	breast:	n/a	n/a
15	STAT3	chr7:7217647-7217920	MCF10A-Er-Src	breast:	n/a	n/a
16	SIN3AK20	chr7:7217472-7218303	MCF-7	breast:	n/a	n/a
17	CEBPB	chr7:7217691-7218227	MCF-7	breast:	n/a	n/a
18	NR2F2	chr7:7217583-7218129	MCF-7	breast:	n/a	n/a
19	STAT3	chr7:7217789-7218141	MCF10A-Er-Src	breast:	n/a	n/a
20	FOSL2	chr7:7217657-7218174	MCF-7	breast:	n/a	chr7:7218040-7218049
21	TCF12	chr7:7217511-7218178	MCF-7	breast:	n/a	n/a
22	FOS	chr7:7217769-7218194	MCF10A-Er-Src	breast:	n/a	chr7:7218040-7218049
23	CEBPB	chr7:7217659-7218256	MCF-7	breast:	n/a	n/a
24	GATA3	chr7:7217260-7218428	MCF-7	breast:	n/a	chr7:7217349-7217359
25	FOXA1	chr7:7217762-7218084	T-47D	breast:	n/a	n/a
26	GATA3	chr7:7217640-7218134	MCF-7	breast:	n/a	n/a
27	TCF7L2	chr7:7217565-7218110	MCF-7	breast:	n/a	chr7:7217819-7217833
28	GATA3	chr7:7217446-7218336	MCF-7	breast:	n/a	n/a
29	FOS	chr7:7217742-7218278	MCF10A-Er-Src	breast:	n/a	chr7:7218040-7218049
30	GATA3	chr7:7217607-7218134	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7213763..7219997-chr7:7220116..7223880,12	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RSPH10B2-2	chr7:7217583-7217955	NONHSAT119101

Variant related genes	Relation type
C1GALT1	TF binding region
ENSG00000106392	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10278474	0.80[ASN][1000 genomes]
rs12667853	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12672133	1.00[EUR][1000 genomes]
rs6960962	0.82[ASN][1000 genomes]
rs73043785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73043789	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 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	nsv428160	chr7:6936949-7219553	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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:72 , 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	chr7:7211200-7220400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr7:7212000-7220400	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr7:7212800-7218800	Strong transcription	Primary B cells from cord blood	blood
6	chr7:7212800-7220800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:7213000-7220400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:7213000-7220400	Weak transcription	Dnd41	blood
9	chr7:7213400-7219800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:7213600-7220800	Enhancers	HMEC	breast
11	chr7:7215200-7218800	Enhancers	Placenta Amnion	Placenta Amnion
12	chr7:7215400-7218200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:7215400-7218800	Enhancers	Hela-S3	cervix
14	chr7:7215400-7218800	Enhancers	Osteobl	bone
15	chr7:7215800-7218400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr7:7216000-7218000	Enhancers	Fetal Intestine Small	intestine
17	chr7:7216000-7220800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:7216600-7218200	Enhancers	NHLF	lung
19	chr7:7216800-7218800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:7216800-7218800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:7216800-7218800	Enhancers	NHDF-Ad	bronchial
22	chr7:7216800-7219800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:7216800-7219800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr7:7216800-7220200	Enhancers	NHEK	skin
25	chr7:7216800-7220400	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr7:7216800-7220800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:7216800-7220800	Weak transcription	Adipose Nuclei	Adipose
28	chr7:7216800-7221000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:7216800-7221200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:7217000-7219800	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:7217000-7219800	Weak transcription	K562	blood
32	chr7:7217000-7220400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr7:7217000-7220400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:7217000-7220400	Weak transcription	HSMMtube	muscle
35	chr7:7217000-7220400	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr7:7217000-7220600	Weak transcription	Primary T cells from cord blood	blood
37	chr7:7217000-7220800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:7217000-7220800	Weak transcription	Small Intestine	intestine
39	chr7:7217000-7221000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:7217000-7221000	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:7217200-7218600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:7217200-7220400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:7217200-7220800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr7:7217200-7220800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:7217200-7220800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr7:7217200-7221200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr7:7217400-7218600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr7:7217400-7218800	Enhancers	A549	lung
49	chr7:7217400-7220200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr7:7217400-7220400	Weak transcription	Primary hematopoietic stem cells	blood

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