Variant report

Variant	rs181491849
Chromosome Location	chr7:128075086-128075087
allele	C/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	FOSL2	chr7:128074392-128075211	MCF-7	breast:	n/a	n/a
2	NR2F2	chr7:128074384-128075815	MCF-7	breast:	n/a	n/a
3	POLR2A	chr7:128075057-128075772	PANC-1	pancreas:	n/a	n/a
4	TCF12	chr7:128074498-128075780	A549	lung:	n/a	chr7:128075361-128075369
5	JUND	chr7:128074659-128075743	T-47D	breast:	n/a	chr7:128074746-128074757
6	EP300	chr7:128074691-128075810	T-47D	breast:	n/a	n/a
7	SIX5	chr7:128074435-128075970	A549	lung:	n/a	n/a
8	MAX	chr7:128074978-128075271	A549	lung:	n/a	n/a
9	MAX	chr7:128074349-128075821	A549	lung:	n/a	n/a
10	GATA2	chr7:128074873-128075225	SH-SY5Y	brain:	n/a	n/a
11	ESR1	chr7:128074867-128075217	T-47D	breast:	n/a	n/a
12	NR3C1	chr7:128074890-128075739	A549	lung:	n/a	chr7:128075318-128075331
13	GATA3	chr7:128074500-128075696	T-47D	breast:	n/a	n/a
14	NR3C1	chr7:128074894-128075720	A549	lung:	n/a	chr7:128075318-128075331
15	GATA3	chr7:128074908-128075179	SH-SY5Y	brain:	n/a	n/a
16	GATA3	chr7:128074577-128075291	MCF-7	breast:	n/a	n/a
17	ESR1	chr7:128074822-128075328	T-47D	breast:	n/a	n/a
18	BCL3	chr7:128074325-128075776	A549	lung:	n/a	n/a
19	ATF3	chr7:128074349-128075853	A549	lung:	n/a	n/a
20	TEAD4	chr7:128074463-128075844	A549	lung:	n/a	n/a
21	JUND	chr7:128074521-128075327	MCF-7	breast:	n/a	chr7:128074746-128074757
22	ARID3A	chr7:128074554-128075237	HepG2	liver:	n/a	n/a
23	ESR1	chr7:128074738-128075313	T-47D	breast:	n/a	n/a
24	FOXA1	chr7:128074870-128075735	T-47D	breast:	n/a	n/a
25	JUND	chr7:128074882-128075753	T-47D	breast:	n/a	n/a
26	BCL3	chr7:128074365-128075878	A549	lung:	n/a	n/a
27	FOXA2	chr7:128074383-128075892	A549	lung:	n/a	n/a
28	ESR1	chr7:128074841-128075676	T-47D	breast:	n/a	n/a
29	FOSL2	chr7:128074428-128075111	A549	lung:	n/a	n/a
30	GATA3	chr7:128074738-128075739	T-47D	breast:	n/a	n/a
31	GATA3	chr7:128074613-128075435	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr7:128074910-128075798	PANC-1	pancreas:	n/a	n/a
33	GATA3	chr7:128074372-128075752	A549	lung:	n/a	n/a
34	MAX	chr7:128074306-128075877	A549	lung:	n/a	n/a
35	NR3C1	chr7:128074978-128075650	A549	lung:	n/a	chr7:128075318-128075331
36	SIN3AK20	chr7:128074433-128075739	MCF-7	breast:	n/a	n/a
37	TEAD4	chr7:128074452-128075766	A549	lung:	n/a	n/a
38	GATA3	chr7:128074331-128075738	MCF-7	breast:	n/a	n/a
39	GATA3	chr7:128074853-128075218	MCF-7	breast:	n/a	n/a
40	NR3C1	chr7:128074932-128075696	A549	lung:	n/a	chr7:128075318-128075331
41	MXI1	chr7:128074687-128075350	SK-N-SH	brain:	n/a	n/a
42	NR2F2	chr7:128074338-128075619	MCF-7	breast:	n/a	n/a
43	JUND	chr7:128074694-128075307	SK-N-SH	brain:	n/a	chr7:128074746-128074757
44	CEBPB	chr7:128074311-128075895	A549	lung:	n/a	chr7:128074649-128074660
45	GATA3	chr7:128074236-128076018	A549	lung:	n/a	n/a
46	TCF7L2	chr7:128074984-128075765	MCF-7	breast:	n/a	n/a
47	FOXA1	chr7:128074593-128075674	T-47D	breast:	n/a	n/a
48	SP1	chr7:128074304-128075968	A549	lung:	n/a	chr7:128075314-128075323 chr7:128075324-128075336 chr7:128075321-128075335 chr7:128075325-128075334 chr7:128074892-128074913 chr7:128075313-128075325
49	TCF12	chr7:128074692-128075272	SK-N-SH	brain:	n/a	n/a
50	GATA3	chr7:128074693-128075454	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:128075023..128077569-chr7:128095918..128098804,2	K562	blood:
2	chr7:128066083..128070069-chr7:128074107..128077404,7	MCF-7	breast:
3	chr7:128074510..128075893-chr7:128101137..128102142,3	MCF-7	breast:
4	chr7:128073893..128075485-chr7:128078567..128080438,2	K562	blood:
5	chr7:128066135..128077193-chr7:128094256..128102719,54	MCF-7	breast:
6	chr7:128045089..128046759-chr7:128073857..128075497,2	MCF-7	breast:
7	chr7:128071934..128079559-chr7:128081793..128086197,10	MCF-7	breast:

Variant related genes	Relation type
ENSG00000228700	TF binding region
ENSG00000273184	Chromatin interaction
ENSG00000238590	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000135245	Chromatin interaction
ENSG00000240758	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	esv1801356	chr7:128073366-128084133	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128051400-128086200	Weak transcription	Right Atrium	heart
2	chr7:128071800-128078600	Weak transcription	Adipose Nuclei	Adipose
3	chr7:128072400-128075400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:128072600-128075400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:128072600-128076200	Enhancers	HepG2	liver
6	chr7:128073800-128083800	Weak transcription	Esophagus	oesophagus
7	chr7:128074400-128075600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:128074400-128076000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr7:128074600-128075600	Active TSS	A549	lung
10	chr7:128074600-128076400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr7:128074800-128075600	Weak transcription	Placenta	Placenta
12	chr7:128074800-128075800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr7:128074800-128076000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:128075000-128075200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
15	chr7:128075000-128075200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:128075000-128075200	Bivalent Enhancer	NHLF	lung
17	chr7:128075000-128075400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:128075000-128075600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr7:128075000-128075600	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:128075000-128075600	Enhancers	NHEK	skin
21	chr7:128075000-128075800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr7:128075000-128075800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:128075000-128075800	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr7:128075000-128076000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:128075000-128076400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:128075000-128076400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:128075000-128076600	Enhancers	Fetal Lung	lung

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