Variant report

Variant	rs6979831
Chromosome Location	chr7:16686734-16686735
allele	A/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	MYC	chr7:16685008-16686761	Hela-S3	cervix:	n/a	chr7:16686183-16686193 chr7:16686016-16686026 chr7:16686184-16686193 chr7:16686186-16686193 chr7:16686500-16686510
2	JUND	chr7:16683520-16687712	SK-N-SH	brain:	n/a	chr7:16685240-16685252 chr7:16685971-16685980
3	POLR2A	chr7:16684272-16688414	MCF10A-Er-Src	breast:	n/a	n/a
4	MAX	chr7:16683953-16686972	Hela-S3	cervix:	n/a	chr7:16686183-16686193 chr7:16686016-16686026 chr7:16686184-16686193 chr7:16686808-16686817 chr7:16686186-16686193 chr7:16686500-16686510
5	SMC3	chr7:16686406-16686849	Hela-S3	cervix:	n/a	n/a
6	RFX5	chr7:16686355-16686805	Hela-S3	cervix:	n/a	n/a
7	SIN3AK20	chr7:16683957-16686822	MCF-7	breast:	n/a	n/a
8	POLR2A	chr7:16683675-16687633	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr7:16686215-16686783	PFSK-1	brain:	n/a	n/a
10	FOS	chr7:16686440-16686755	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr7:16684148-16686886	K562	blood:	n/a	chr7:16686183-16686193 chr7:16686016-16686026 chr7:16686184-16686193 chr7:16686808-16686817 chr7:16686186-16686193 chr7:16686500-16686510
12	POLR2A	chr7:16683641-16686915	PBDE	blood:	n/a	n/a
13	STAT3	chr7:16686652-16686869	MCF10A-Er-Src	breast:	n/a	n/a
14	JUND	chr7:16686397-16686735	K562	blood:	n/a	n/a
15	POLR2A	chr7:16683974-16687597	K562	blood:	n/a	n/a
16	MXI1	chr7:16684054-16687710	IMR90	lung:	n/a	n/a
17	ARID3A	chr7:16686526-16686785	K562	blood:	n/a	n/a
18	STAT3	chr7:16686441-16686781	MCF10A-Er-Src	breast:	n/a	chr7:16686507-16686519 chr7:16686576-16686583
19	REST	chr7:16683815-16687086	H1-neurons	neurons:	n/a	chr7:16686291-16686300
20	SRF	chr7:16686368-16686762	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr7:16685068-16686799	SK-N-MC	brain:	n/a	n/a
22	MAZ	chr7:16684108-16687071	IMR90	lung:	n/a	chr7:16686183-16686193 chr7:16686184-16686193 chr7:16686808-16686817 chr7:16686186-16686193 chr7:16686500-16686510
23	MYC	chr7:16685283-16686815	MCF10A-Er-Src	breast:	n/a	chr7:16686183-16686193 chr7:16686016-16686026 chr7:16686184-16686193 chr7:16686186-16686193 chr7:16686500-16686510
24	CHD1	chr7:16683499-16687752	IMR90	lung:	n/a	n/a
25	POLR2A	chr7:16684213-16687064	IMR90	lung:	n/a	n/a
26	SRF	chr7:16686338-16686805	ECC-1	luminal epithelium:	n/a	n/a
27	MYC	chr7:16684280-16686993	MCF10A-Er-Src	breast:	n/a	chr7:16686183-16686193 chr7:16686016-16686026 chr7:16686184-16686193 chr7:16686808-16686817 chr7:16686186-16686193 chr7:16686500-16686510
28	JUN	chr7:16686623-16686823	K562	blood:	n/a	n/a
29	MAX	chr7:16684012-16686842	SK-N-SH	brain:	n/a	chr7:16686183-16686193 chr7:16686016-16686026 chr7:16686184-16686193 chr7:16686808-16686817 chr7:16686186-16686193 chr7:16686500-16686510
30	POLR2A	chr7:16684235-16686780	MCF10A-Er-Src	breast:	n/a	n/a
31	BHLHE40	chr7:16684035-16686772	K562	blood:	n/a	chr7:16685403-16685419 chr7:16685997-16686013
32	POLR2A	chr7:16684164-16686765	Raji	blood:	n/a	n/a
33	POLR2A	chr7:16684158-16686947	Hela-S3	cervix:	n/a	n/a
34	TBP	chr7:16686361-16686901	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:16307737..16311020-chr7:16684818..16687152,3	K562	blood:
2	chr7:16685077..16688645-chr7:16790567..16794834,4	K562	blood:
3	chr7:16685826..16687639-chr7:16712666..16714460,2	MCF-7	breast:
4	chr7:16684583..16687261-chr7:16726504..16728541,2	MCF-7	breast:
5	chr7:16302428..16304569-chr7:16686662..16689057,2	K562	blood:
6	chr7:16683657..16687154-chr7:16840807..16845302,5	MCF-7	breast:
7	chr7:16685048..16687300-chr7:16700569..16704504,5	MCF-7	breast:
8	chr7:16456001..16461931-chr7:16682283..16687700,6	K562	blood:
9	chr7:16307417..16309237-chr7:16685352..16687215,2	K562	blood:
10	chr7:16686702..16688668-chr7:16746976..16749655,2	K562	blood:

Variant related genes	Relation type
ANKMY2	TF binding region
ENSG00000106537	Chromatin interaction
ENSG00000136261	Chromatin interaction
ENSG00000106541	Chromatin interaction
ENSG00000229688	Chromatin interaction
ENSG00000214960	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs73063985	1.00[AMR][1000 genomes]
rs73063986	1.00[AMR][1000 genomes]
rs73063997	1.00[AMR][1000 genomes]
rs7777674	1.00[AMR][1000 genomes]
rs819013	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv830912	chr7:16623196-16791974	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv887759	chr7:16642995-16686940	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	27 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	chr7:16681600-16686800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:16683600-16686800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:16683600-16686800	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr7:16683800-16686800	Active TSS	Aorta	Aorta
5	chr7:16683800-16686800	Active TSS	HSMMtube	muscle
6	chr7:16683800-16687000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:16683800-16687400	Active TSS	Left Ventricle	heart
8	chr7:16684000-16686800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:16684000-16686800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:16684000-16686800	Active TSS	Brain Substantia Nigra	brain
11	chr7:16684000-16686800	Active TSS	Fetal Stomach	stomach
12	chr7:16684000-16686800	Active TSS	Ovary	ovary
13	chr7:16684000-16686800	Active TSS	A549	lung
14	chr7:16684000-16687000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr7:16684000-16687000	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr7:16684000-16687000	Active TSS	Fetal Intestine Large	intestine
17	chr7:16684000-16687000	Active TSS	Fetal Intestine Small	intestine
18	chr7:16684000-16687000	Active TSS	Fetal Muscle Trunk	muscle
19	chr7:16684000-16687000	Active TSS	NHDF-Ad	bronchial
20	chr7:16684000-16687200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr7:16684000-16687200	Active TSS	Brain Angular Gyrus	brain
22	chr7:16684000-16687400	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr7:16684000-16687400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr7:16684000-16687400	Active TSS	Placenta Amnion	Placenta Amnion
25	chr7:16684000-16687400	Active TSS	Right Atrium	heart
26	chr7:16684000-16687400	Active TSS	K562	blood
27	chr7:16684000-16687600	Active TSS	Fetal Brain Male	brain
28	chr7:16684000-16687600	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr7:16684000-16687600	Active TSS	Stomach Smooth Muscle	stomach
30	chr7:16684000-16687800	Active TSS	NHLF	lung
31	chr7:16684200-16686800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:16684200-16686800	Active TSS	Fetal Heart	heart
33	chr7:16684200-16686800	Active TSS	Fetal Lung	lung
34	chr7:16684200-16686800	Active TSS	Lung	lung
35	chr7:16684200-16686800	Bivalent/Poised TSS	HepG2	liver
36	chr7:16684200-16687000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:16684200-16687000	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:16684200-16687000	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr7:16684200-16687000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr7:16684200-16687000	Active TSS	Brain Cingulate Gyrus	brain
41	chr7:16684200-16687200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr7:16684200-16687200	Active TSS	Muscle Satellite Cultured Cells	--
43	chr7:16684200-16687400	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr7:16684200-16687400	Active TSS	Fetal Kidney	kidney
45	chr7:16684400-16686800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:16684400-16686800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr7:16684400-16686800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr7:16684400-16686800	Active TSS	Fetal Muscle Leg	muscle
49	chr7:16684400-16686800	Active TSS	Stomach Mucosa	stomach
50	chr7:16684400-16686800	Active TSS	HMEC	breast

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