Variant report

Variant	rs553254723
Chromosome Location	chr7:102714963-102714964
allele	C/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	POLR2A	chr7:102714753-102716576	K562	blood:	n/a	n/a
2	ELF1	chr7:102714837-102715722	A549	lung:	n/a	chr7:102715347-102715359 chr7:102715332-102715344
3	CHD2	chr7:102714681-102715496	K562	blood:	n/a	n/a
4	E2F4	chr7:102714883-102715632	MCF10A-Er-Src	breast:	n/a	chr7:102715349-102715361 chr7:102715307-102715316 chr7:102715350-102715361
5	UBTF	chr7:102714741-102716398	K562	blood:	n/a	n/a
6	POLR2A	chr7:102714781-102716191	K562	blood:	n/a	n/a
7	TAF1	chr7:102714789-102715118	Hela-S3	cervix:	n/a	n/a
8	EP300	chr7:102714905-102715711	GM12878	blood:	n/a	chr7:102715341-102715357 chr7:102715416-102715425
9	MXI1	chr7:102714010-102717069	SK-N-SH	brain:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
10	MAX	chr7:102714737-102716411	HepG2	liver:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
11	STAT1	chr7:102714891-102715725	GM12878	blood:	n/a	chr7:102715358-102715366 chr7:102715556-102715576 chr7:102715309-102715321
12	GABPA	chr7:102714472-102715760	SK-N-SH	brain:	n/a	chr7:102715307-102715316
13	PML	chr7:102714799-102715738	MCF-7	breast:	n/a	n/a
14	MAX	chr7:102714872-102715754	HUVEC	blood vessel:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
15	STAT5A	chr7:102714956-102715441	GM12878	blood:	n/a	chr7:102715358-102715366 chr7:102715309-102715321
16	MAX	chr7:102714600-102716292	ECC-1	luminal epithelium:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
17	FOXM1	chr7:102714940-102715414	GM12878	blood:	n/a	n/a
18	E2F6	chr7:102714860-102715733	K562	blood:	n/a	chr7:102715349-102715361 chr7:102715307-102715316 chr7:102715709-102715719
19	RCOR1	chr7:102714952-102715637	GM12878	blood:	n/a	n/a
20	SMC3	chr7:102714874-102715649	K562	blood:	n/a	chr7:102715304-102715314
21	HMGN3	chr7:102714785-102715992	K562	blood:	n/a	n/a
22	TBP	chr7:102714821-102715730	GM12878	blood:	n/a	n/a
23	MYC	chr7:102714520-102716139	MCF10A-Er-Src	breast:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
24	SIN3AK20	chr7:102714797-102715941	PANC-1	pancreas:	n/a	n/a
25	POLR2A	chr7:102714569-102716479	Hela-S3	cervix:	n/a	n/a
26	SRF	chr7:102714680-102715715	MCF-7	breast:	n/a	n/a
27	MYC	chr7:102714794-102716046	Hela-S3	cervix:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
28	KAP1	chr7:102714666-102715144	U2OS	brain:	n/a	n/a
29	BACH1	chr7:102714954-102715637	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr7:102714714-102716938	MCF10A-Er-Src	breast:	n/a	n/a
31	YY1	chr7:102714733-102715793	SK-N-SH_RA	brain:	n/a	chr7:102715307-102715316
32	IRF1	chr7:102714825-102715740	K562	blood:	n/a	chr7:102715306-102715320 chr7:102715566-102715580 chr7:102715323-102715337
33	MYC	chr7:102714559-102716336	A549	lung:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
34	TCF7L2	chr7:102714604-102715776	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr7:102714846-102716176	GM18951	blood:	n/a	n/a
36	MYC	chr7:102714925-102715785	K562	blood:	n/a	chr7:102715433-102715442
37	POLR2A	chr7:102714853-102714992	A549	lung:	n/a	n/a
38	MXI1	chr7:102714835-102715760	Hela-S3	cervix:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
39	STAT3	chr7:102714517-102715586	MCF10A-Er-Src	breast:	n/a	chr7:102715358-102715366 chr7:102715556-102715576 chr7:102715309-102715321
40	EGR1	chr7:102714627-102715766	MCF-7	breast:	n/a	chr7:102715307-102715317 chr7:102715527-102715538 chr7:102715332-102715342 chr7:102715532-102715539 chr7:102715454-102715464 chr7:102715525-102715540
41	BRCA1	chr7:102714725-102715413	Hela-S3	cervix:	n/a	n/a
42	CREB1	chr7:102714938-102715885	A549	lung:	n/a	n/a
43	USF2	chr7:102714948-102715773	H1-hESC	embryonic stem cell:	n/a	chr7:102715272-102715288
44	MAX	chr7:102714933-102716363	HepG2	liver:	n/a	chr7:102715433-102715442
45	POLR2A	chr7:102714787-102716434	ECC-1	luminal epithelium:	n/a	n/a
46	POLR2A	chr7:102714810-102716067	A549	lung:	n/a	n/a
47	MTA3	chr7:102714877-102715718	GM12878	blood:	n/a	n/a
48	ELF1	chr7:102714812-102715728	SK-N-SH	brain:	n/a	chr7:102715347-102715359 chr7:102715332-102715344
49	POLR2A	chr7:102714759-102716480	H1-hESC	embryonic stem cell:	n/a	n/a
50	CREB1	chr7:102714808-102716106	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102714716..102718005-chr7:102734624..102737524,3	MCF-7	breast:
2	chr7:102714725..102717201-chr7:102788241..102791780,5	K562	blood:
3	chr6:26154807..26157784-chr7:102714627..102716921,2	MCF-7	breast:
4	chr7:102714740..102716868-chr7:102950642..102953182,2	MCF-7	breast:
5	chr7:102387955..102390990-chr7:102714406..102717094,4	MCF-7	breast:
6	chr7:102714451..102716302-chr7:102729810..102731727,2	MCF-7	breast:
7	chr7:102388357..102390801-chr7:102713734..102717426,3	K562	blood:
8	chr7:102389494..102391981-chr7:102714130..102716680,2	MCF-7	breast:
9	chr7:102714408..102716045-chr7:102987929..102989478,2	MCF-7	breast:
10	chr1:45987091..45988045-chr7:102714307..102715515,3	Hela-S3	cervix:
11	chr7:102713351..102719247-chr7:102725221..102729310,7	MCF-7	breast:
12	chr7:102714022..102717631-chr7:102788669..102792237,6	MCF-7	breast:
13	chr7:102714083..102716830-chr7:102726342..102727868,2	K562	blood:
14	chr7:102712172..102716042-chr7:102726342..102729326,4	K562	blood:
15	chr7:102713709..102715211-chr7:102789642..102791984,2	K562	blood:
16	chr16:2014658..2015448-chr7:102714835..102715649,2	HCT-116	colon:
17	chr7:102714071..102718258-chr7:102757961..102760938,3	K562	blood:
18	chr7:102714786..102716772-chr7:102789401..102791256,2	MCF-7	breast:

Variant related genes	Relation type
ARMC10	TF binding region
ENSG00000168298	Chromatin interaction
ENSG00000161057	Chromatin interaction
ENSG00000222011	Chromatin interaction
ENSG00000170632	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000233025	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000105819	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000235354	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv868996	chr7:102332827-102991361	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	esv2752138	chr7:102358320-102787135	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv526764	chr7:102701826-102737251	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv3338407	chr7:102714341-102716889	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 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	chr7:102714000-102716400	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:102714000-102716800	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:102714000-102717000	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:102714200-102715000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr7:102714200-102715000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:102714200-102715000	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr7:102714200-102715000	Flanking Active TSS	Hela-S3	cervix
8	chr7:102714200-102715000	Flanking Active TSS	HMEC	breast
9	chr7:102714200-102715000	Flanking Active TSS	HUVEC	blood vessel
10	chr7:102714200-102715000	Flanking Active TSS	K562	blood
11	chr7:102714200-102715000	Flanking Active TSS	NHEK	skin
12	chr7:102714200-102715200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr7:102714200-102715200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr7:102714200-102716200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:102714200-102716800	Active TSS	H1 Cell Line	embryonic stem cell
16	chr7:102714200-102717000	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr7:102714200-102717000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:102714200-102717000	Active TSS	A549	lung
19	chr7:102714400-102715000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
20	chr7:102714400-102715000	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr7:102714400-102715000	Flanking Active TSS	Liver	Liver
22	chr7:102714400-102715000	Flanking Active TSS	Brain Substantia Nigra	brain
23	chr7:102714400-102715000	Flanking Active TSS	Colonic Mucosa	Colon
24	chr7:102714400-102715000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr7:102714400-102715000	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr7:102714400-102715000	Flanking Active TSS	Placenta	Placenta
27	chr7:102714400-102715000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
28	chr7:102714400-102715000	Enhancers	Spleen	Spleen
29	chr7:102714400-102715000	Flanking Active TSS	GM12878-XiMat	blood
30	chr7:102714400-102715200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:102714400-102715200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr7:102714400-102715200	Flanking Active TSS	Dnd41	blood
33	chr7:102714400-102715200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr7:102714400-102716200	Active TSS	Fetal Brain Male	brain
35	chr7:102714400-102716600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:102714400-102716600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr7:102714400-102716600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:102714400-102716600	Active TSS	Aorta	Aorta
39	chr7:102714400-102716600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr7:102714400-102716800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
41	chr7:102714400-102717000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:102714600-102715000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr7:102714600-102715000	Flanking Active TSS	Primary hematopoietic stem cells	blood
44	chr7:102714600-102715000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
45	chr7:102714600-102715000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:102714600-102715000	Flanking Active TSS	Fetal Brain Female	brain
47	chr7:102714600-102715000	Flanking Active TSS	Fetal Muscle Trunk	muscle
48	chr7:102714600-102715000	Active TSS	Right Atrium	heart
49	chr7:102714600-102715000	Enhancers	Small Intestine	intestine
50	chr7:102714600-102715000	Flanking Active TSS	Thymus	Thymus

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