Variant report

Variant	rs7798381
Chromosome Location	chr7:102715804-102715805
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	CEBPD	chr7:102715155-102716039	HepG2	liver:	n/a	n/a
3	UBTF	chr7:102714741-102716398	K562	blood:	n/a	n/a
4	POLR2A	chr7:102715453-102715825	HCT-116	colon:	n/a	n/a
5	POLR2A	chr7:102714781-102716191	K562	blood:	n/a	n/a
6	GTF2F1	chr7:102715046-102716184	H1-hESC	embryonic stem cell:	n/a	n/a
7	MXI1	chr7:102714010-102717069	SK-N-SH	brain:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
8	MAX	chr7:102714737-102716411	HepG2	liver:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
9	POLR2A	chr7:102715107-102716312	GM19099	blood:	n/a	n/a
10	MTA3	chr7:102715739-102716639	GM12878	blood:	n/a	n/a
11	ZBTB7A	chr7:102715027-102715939	K562	blood:	n/a	n/a
12	MAX	chr7:102714600-102716292	ECC-1	luminal epithelium:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
13	TAF1	chr7:102715102-102716259	H1-hESC	embryonic stem cell:	n/a	n/a
14	HMGN3	chr7:102714785-102715992	K562	blood:	n/a	n/a
15	MYC	chr7:102714520-102716139	MCF10A-Er-Src	breast:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
16	SIN3AK20	chr7:102714797-102715941	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr7:102714569-102716479	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr7:102715796-102716138	H1-neurons	neurons:	n/a	n/a
19	MYC	chr7:102714794-102716046	Hela-S3	cervix:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
20	POLR2A	chr7:102714714-102716938	MCF10A-Er-Src	breast:	n/a	n/a
21	MYC	chr7:102714559-102716336	A549	lung:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
22	POLR2A	chr7:102715202-102716302	GM12891	blood:	n/a	n/a
23	POLR2A	chr7:102714846-102716176	GM18951	blood:	n/a	n/a
24	TAF1	chr7:102715795-102716185	SK-N-SH	brain:	n/a	n/a
25	TAF1	chr7:102715095-102716103	HepG2	liver:	n/a	n/a
26	POLR2A	chr7:102715260-102716039	HepG2	liver:	n/a	n/a
27	CREB1	chr7:102714938-102715885	A549	lung:	n/a	n/a
28	TAF1	chr7:102715174-102716151	GM12878	blood:	n/a	n/a
29	MAX	chr7:102714933-102716363	HepG2	liver:	n/a	chr7:102715433-102715442
30	POLR2A	chr7:102714787-102716434	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr7:102714810-102716067	A549	lung:	n/a	n/a
32	POLR2A	chr7:102714759-102716480	H1-hESC	embryonic stem cell:	n/a	n/a
33	CREB1	chr7:102714808-102716106	HepG2	liver:	n/a	n/a
34	POLR2A	chr7:102714995-102716285	GM12891	blood:	n/a	n/a
35	POLR2A	chr7:102714637-102715898	U87	brain:	n/a	n/a
36	SIN3AK20	chr7:102715763-102715961	HepG2	liver:	n/a	n/a
37	POLR2A	chr7:102715302-102716084	HepG2	liver:	n/a	n/a
38	SIN3AK20	chr7:102714388-102716493	SK-N-SH	brain:	n/a	n/a
39	POLR2A	chr7:102714646-102716353	K562	blood:	n/a	n/a
40	POLR2A	chr7:102714789-102716456	K562	blood:	n/a	n/a
41	POLR2A	chr7:102714851-102716371	NB4	blood:	n/a	n/a
42	BHLHE40	chr7:102714705-102716143	GM12878	blood:	n/a	chr7:102715272-102715288
43	ZEB1	chr7:102715281-102716090	GM12878	blood:	n/a	n/a
44	MXI1	chr7:102714708-102716470	GM12878	blood:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
45	ELF1	chr7:102714535-102716203	MCF-7	breast:	n/a	chr7:102715347-102715359 chr7:102715332-102715344
46	POLR2A	chr7:102715054-102716179	GM18526	blood:	n/a	n/a
47	MAX	chr7:102714769-102716568	GM12878	blood:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
48	TCF3	chr7:102715145-102716060	GM12878	blood:	n/a	chr7:102715876-102715890
49	SIN3AK20	chr7:102714396-102716742	MCF-7	breast:	n/a	n/a
50	SMARCB1	chr7:102714796-102716425	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:102715561..102717346-chr7:102754713..102757374,2	MCF-7	breast:
2	chr7:102714716..102718005-chr7:102734624..102737524,3	MCF-7	breast:
3	chr7:102714725..102717201-chr7:102788241..102791780,5	K562	blood:
4	chr6:26154807..26157784-chr7:102714627..102716921,2	MCF-7	breast:
5	chr7:102715242..102717974-chr7:105515259..105517980,2	MCF-7	breast:
6	chr7:102714740..102716868-chr7:102950642..102953182,2	MCF-7	breast:
7	chr7:102715629..102718160-chr7:102729461..102731149,2	K562	blood:
8	chr7:102387955..102390990-chr7:102714406..102717094,4	MCF-7	breast:
9	chr7:102714451..102716302-chr7:102729810..102731727,2	MCF-7	breast:
10	chr7:102714987..102719162-chr7:102758108..102764327,6	K562	blood:
11	chr7:102388357..102390801-chr7:102713734..102717426,3	K562	blood:
12	chr7:102389494..102391981-chr7:102714130..102716680,2	MCF-7	breast:
13	chr7:102715186..102716960-chr7:102734053..102738564,5	K562	blood:
14	chr7:102714408..102716045-chr7:102987929..102989478,2	MCF-7	breast:
15	chr7:102715317..102716101-chrX:11775950..11776939,2	Hela-S3	cervix:
16	chr22:20193823..20194749-chr7:102715063..102715854,2	HCT-116	colon:
17	chr3:156878407..156879008-chr7:102715174..102716014,2	Hela-S3	cervix:
18	chr7:102713351..102719247-chr7:102725221..102729310,7	MCF-7	breast:
19	chr7:102714022..102717631-chr7:102788669..102792237,6	MCF-7	breast:
20	chr7:102714083..102716830-chr7:102726342..102727868,2	K562	blood:
21	chr1:247495212..247495870-chr7:102715654..102716186,2	Hela-S3	cervix:
22	chr7:102712172..102716042-chr7:102726342..102729326,4	K562	blood:
23	chr17:56707584..56709248-chr7:102715096..102717010,2	MCF-7	breast:
24	chr7:102613006..102614516-chr7:102715583..102717366,2	K562	blood:
25	chr7:102714071..102718258-chr7:102757961..102760938,3	K562	blood:
26	chr7:102715186..102716937-chr7:102734053..102736983,2	K562	blood:
27	chr7:102714786..102716772-chr7:102789401..102791256,2	MCF-7	breast:

Variant related genes	Relation type
FBXL13	TF binding region
ENSG00000233025	Chromatin interaction
ENSG00000170632	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000146776	Chromatin interaction
ENSG00000222011	Chromatin interaction
ENSG00000236499	Chromatin interaction
ENSG00000128536	Chromatin interaction
ENSG00000005302	Chromatin interaction
ENSG00000230257	Chromatin interaction
ENSG00000105819	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000235354	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000161057	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12673840	0.90[AMR][1000 genomes]
rs17136046	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17136122	0.80[AMR][1000 genomes]
rs28817087	0.80[AMR][1000 genomes]
rs3800939	0.90[AMR][1000 genomes]
rs4457269	0.80[AMR][1000 genomes]
rs59099783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs60545001	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61749912	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6465884	0.80[AMR][1000 genomes]
rs6465890	0.94[EUR][1000 genomes]
rs6942688	0.80[AMR][1000 genomes]
rs6964078	0.80[AMR][1000 genomes]
rs6969209	0.80[AMR][1000 genomes]
rs7455410	0.90[EUR][1000 genomes]

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	chr7:102714200-102716200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr7:102714200-102716800	Active TSS	H1 Cell Line	embryonic stem cell
6	chr7:102714200-102717000	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr7:102714200-102717000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:102714200-102717000	Active TSS	A549	lung
9	chr7:102714400-102716200	Active TSS	Fetal Brain Male	brain
10	chr7:102714400-102716600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:102714400-102716600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr7:102714400-102716600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:102714400-102716600	Active TSS	Aorta	Aorta
14	chr7:102714400-102716600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr7:102714400-102716800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr7:102714400-102717000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:102714600-102716200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr7:102714600-102716200	Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr7:102714600-102716200	Active TSS	Primary T cells from cord blood	blood
20	chr7:102714600-102716200	Active TSS	Brain Germinal Matrix	brain
21	chr7:102714600-102716400	Active TSS	Colon Smooth Muscle	Colon
22	chr7:102714600-102716400	Active TSS	Gastric	stomach
23	chr7:102714600-102716400	Active TSS	Sigmoid Colon	Sigmoid Colon
24	chr7:102714600-102716600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr7:102714600-102716600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:102714600-102716600	Active TSS	Fetal Intestine Small	intestine
27	chr7:102714600-102716600	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr7:102714600-102716600	Active TSS	Lung	lung
29	chr7:102714600-102716600	Active TSS	Ovary	ovary
30	chr7:102714600-102716600	Active TSS	Placenta Amnion	Placenta Amnion
31	chr7:102714600-102716800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr7:102714600-102717000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:102714800-102716000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:102714800-102716000	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr7:102714800-102716200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr7:102714800-102716200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:102714800-102716200	Active TSS	Brain Anterior Caudate	brain
38	chr7:102714800-102716200	Active TSS	Brain Cingulate Gyrus	brain
39	chr7:102714800-102716200	Active TSS	Brain Hippocampus Middle	brain
40	chr7:102714800-102716200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:102714800-102716200	Active TSS	Fetal Lung	lung
42	chr7:102714800-102716200	Active TSS	Fetal Stomach	stomach
43	chr7:102714800-102716200	Active TSS	Pancreas	Pancrea
44	chr7:102714800-102716200	Active TSS	Psoas Muscle	Psoas
45	chr7:102714800-102716200	Active TSS	Rectal Mucosa Donor 31	rectum
46	chr7:102714800-102716200	Active TSS	Stomach Mucosa	stomach
47	chr7:102714800-102716200	Active TSS	Stomach Smooth Muscle	stomach
48	chr7:102714800-102716200	Active TSS	NH-A	brain
49	chr7:102714800-102716200	Active TSS	Osteobl	bone
50	chr7:102714800-102716400	Active TSS	iPS-18 Cell Line	embryonic stem cell

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