Variant report

Variant	rs7799853
Chromosome Location	chr7:127984248-127984249
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	HA-E2F1	chr7:127983504-127984275	MCF-7	breast:	n/a	n/a
2	MAX	chr7:127983489-127984268	HCT-116	colon:	n/a	n/a
3	MAFK	chr7:127983636-127984433	K562	blood:	n/a	n/a
4	PML	chr7:127983510-127984255	K562	blood:	n/a	n/a
5	ETS1	chr7:127983563-127984268	A549	lung:	n/a	chr7:127983955-127983965 chr7:127983954-127983963 chr7:127983950-127983966 chr7:127983954-127983963 chr7:127984068-127984079
6	SRF	chr7:127983484-127984327	MCF-7	breast:	n/a	n/a
7	SIN3AK20	chr7:127983289-127984386	MCF-7	breast:	n/a	n/a
8	TBL1XR1	chr7:127983478-127984487	K562	blood:	n/a	n/a
9	SP1	chr7:127983407-127984356	HCT-116	colon:	n/a	chr7:127983716-127983728 chr7:127983717-127983727 chr7:127984066-127984078 chr7:127983717-127983727 chr7:127984066-127984078 chr7:127983717-127983726 chr7:127983718-127983727 chr7:127983717-127983726 chr7:127984068-127984077 chr7:127984067-127984076 chr7:127983716-127983728 chr7:127984067-127984081
10	CEBPB	chr7:127983468-127984265	GM12878	blood:	n/a	n/a
11	TEAD4	chr7:127983573-127984293	SK-N-SH	brain:	n/a	n/a
12	BRCA1	chr7:127983689-127984548	Hela-S3	cervix:	n/a	n/a
13	ELF1	chr7:127983709-127984268	SK-N-SH	brain:	n/a	chr7:127983952-127983963 chr7:127983952-127983963
14	YY1	chr7:127983550-127984356	H1-hESC	embryonic stem cell:	n/a	chr7:127984032-127984042 chr7:127984066-127984080
15	HCFC1	chr7:127983466-127984422	K562	blood:	n/a	n/a
16	MAX	chr7:127983353-127984313	HCT-116	colon:	n/a	n/a
17	MYC	chr7:127983262-127984342	A549	lung:	n/a	n/a
18	POLR2A	chr7:127983463-127984356	U87	brain:	n/a	n/a
19	JUN	chr7:127983780-127984603	K562	blood:	n/a	n/a
20	SP1	chr7:127983536-127984267	A549	lung:	n/a	chr7:127983716-127983728 chr7:127983717-127983727 chr7:127984066-127984078 chr7:127983717-127983727 chr7:127984066-127984078 chr7:127983717-127983726 chr7:127983718-127983727 chr7:127983717-127983726 chr7:127984068-127984077 chr7:127984067-127984076 chr7:127983716-127983728 chr7:127984067-127984081
21	E2F6	chr7:127983656-127984300	A549	lung:	n/a	n/a
22	BCLAF1	chr7:127983582-127984294	K562	blood:	n/a	chr7:127984068-127984081 chr7:127983954-127983963 chr7:127984067-127984076
23	GABPA	chr7:127983281-127984403	A549	lung:	n/a	n/a
24	NR2F2	chr7:127982702-127984323	K562	blood:	n/a	n/a
25	TFAP2C	chr7:127983713-127984449	Hela-S3	cervix:	n/a	n/a
26	TBL1XR1	chr7:127982961-127984447	K562	blood:	n/a	n/a
27	ATF3	chr7:127983636-127984392	K562	blood:	n/a	n/a
28	TRIM28	chr7:127983373-127984818	K562	blood:	n/a	n/a
29	POLR2A	chr7:127983562-127984277	GM19099	blood:	n/a	n/a
30	YY1	chr7:127983554-127984374	GM12892	blood:	n/a	chr7:127984032-127984042 chr7:127984066-127984080
31	POLR2A	chr7:127983457-127984418	U87	brain:	n/a	n/a
32	TFAP2A	chr7:127983755-127984406	Hela-S3	cervix:	n/a	chr7:127984041-127984049 chr7:127984040-127984048 chr7:127984315-127984323 chr7:127984039-127984050 chr7:127984039-127984050 chr7:127984041-127984049 chr7:127984040-127984048 chr7:127984315-127984323 chr7:127984041-127984049 chr7:127984315-127984323 chr7:127984039-127984050 chr7:127984039-127984050 chr7:127984312-127984326 chr7:127984039-127984050 chr7:127984312-127984326 chr7:127984040-127984048
33	SIX5	chr7:127983477-127984350	A549	lung:	n/a	n/a
34	REST	chr7:127983361-127984405	H1-neurons	neurons:	n/a	chr7:127984067-127984080
35	STAT3	chr7:127983820-127984313	MCF10A-Er-Src	breast:	n/a	n/a
36	TCF12	chr7:127983294-127984359	ECC-1	luminal epithelium:	n/a	n/a
37	MYBL2	chr7:127983489-127984302	HepG2	liver:	n/a	n/a
38	CHD1	chr7:127983783-127984304	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:127983413-127984257	U87	brain:	n/a	n/a
40	GABPA	chr7:127983492-127984429	SK-N-SH	brain:	n/a	n/a
41	ZC3H11A	chr7:127983505-127984542	K562	blood:	n/a	n/a
42	SRF	chr7:127983268-127984343	HCT-116	colon:	n/a	n/a
43	CUX1	chr7:127983376-127984358	K562	blood:	n/a	n/a
44	YY1	chr7:127983536-127984312	SK-N-SH	brain:	n/a	chr7:127984032-127984042 chr7:127984066-127984080
45	GABPA	chr7:127983419-127984331	A549	lung:	n/a	n/a
46	PML	chr7:127983333-127984313	GM12878	blood:	n/a	n/a
47	POLR2A	chr7:127983565-127984304	PFSK-1	brain:	n/a	n/a
48	PBX3	chr7:127983648-127984313	SK-N-SH	brain:	n/a	n/a
49	MAZ	chr7:127983344-127984532	IMR90	lung:	n/a	n/a
50	GATA3	chr7:127983552-127984358	A549	lung:	n/a	chr7:127984334-127984341

No.	Distal block	Cell Line	Cell type
1	chr7:127981986..127985324-chr7:128043786..128047324,3	K562	blood:
2	chr7:127981006..127985181-chr7:128044302..128047781,3	MCF-7	breast:
3	chr7:127982050..127985267-chr7:128038524..128041227,4	K562	blood:
4	chr7:127983161..127986061-chr7:128377718..128379519,2	K562	blood:
5	chr7:127982483..127985267-chr7:128038524..128041227,3	K562	blood:
6	chr7:127982337..127986134-chr7:128031866..128036135,4	MCF-7	breast:
7	chr7:127982196..127985036-chr7:128048348..128051893,5	MCF-7	breast:
8	chr7:127981540..127985237-chr7:128094279..128097407,4	K562	blood:
9	chr7:127973213..127977895-chr7:127980902..127985287,5	MCF-7	breast:

Variant related genes	Relation type
RBM28	TF binding region
ENSG00000273184	Chromatin interaction
ENSG00000106344	Chromatin interaction
ENSG00000106348	Chromatin interaction
ENSG00000128595	Chromatin interaction
ENSG00000240758	Chromatin interaction
ENSG00000135245	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11554671	1.00[AMR][1000 genomes]
rs61733109	1.00[AMR][1000 genomes]
rs6467173	1.00[AMR][1000 genomes]
rs6948206	1.00[AMR][1000 genomes]
rs6959976	1.00[AMR][1000 genomes]
rs7799251	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7804286	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127982200-127984400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:127982200-127984400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:127982200-127984400	Active TSS	Right Ventricle	heart
4	chr7:127982400-127984400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:127982400-127984400	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:127982400-127984400	Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr7:127982400-127984600	Active TSS	A549	lung
8	chr7:127982600-127984400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr7:127982800-127984400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:127982800-127984400	Active TSS	Fetal Muscle Trunk	muscle
11	chr7:127983000-127984400	Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr7:127983000-127984400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr7:127983000-127984400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr7:127983000-127984400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr7:127983000-127984400	Active TSS	Fetal Kidney	kidney
16	chr7:127983000-127984400	Active TSS	Ovary	ovary
17	chr7:127983000-127984400	Active TSS	Psoas Muscle	Psoas
18	chr7:127983000-127984400	Active TSS	Right Atrium	heart
19	chr7:127983000-127984400	Active TSS	K562	blood
20	chr7:127983000-127984600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:127983200-127984400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:127983200-127984400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:127983200-127984400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:127983200-127984400	Active TSS	Aorta	Aorta
25	chr7:127983200-127984400	Active TSS	Fetal Brain Female	brain
26	chr7:127983200-127984400	Active TSS	Fetal Intestine Small	intestine
27	chr7:127983200-127984400	Active TSS	Placenta Amnion	Placenta Amnion
28	chr7:127983200-127984400	Active TSS	Rectal Smooth Muscle	rectum
29	chr7:127983200-127984400	Active TSS	HUVEC	blood vessel
30	chr7:127983200-127984400	Active TSS	NHLF	lung
31	chr7:127983200-127984600	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr7:127983400-127984400	Active TSS	Brain Anterior Caudate	brain
33	chr7:127983400-127984400	Active TSS	Brain Cingulate Gyrus	brain
34	chr7:127983400-127984400	Active TSS	Brain Inferior Temporal Lobe	brain
35	chr7:127983400-127984400	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr7:127983400-127984400	Active TSS	Stomach Smooth Muscle	stomach
37	chr7:127983400-127984400	Active TSS	Thymus	Thymus
38	chr7:127983400-127984400	Active TSS	GM12878-XiMat	blood
39	chr7:127983400-127984400	Active TSS	Hela-S3	cervix
40	chr7:127983400-127984400	Active TSS	NH-A	brain
41	chr7:127983400-127984600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:127983400-127984600	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr7:127983400-127984600	Active TSS	Skeletal Muscle Male	skeletal muscle
44	chr7:127983600-127984400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
45	chr7:127983600-127984400	Active TSS	Skeletal Muscle Female	skeletal muscle
46	chr7:127983600-127984600	Active TSS	Brain Angular Gyrus	brain
47	chr7:127983600-127984600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr7:127984000-127984400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr7:127984000-127984400	Flanking Active TSS	Placenta	Placenta
50	chr7:127984000-127984400	Flanking Active TSS	Fetal Thymus	thymus

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