Variant report

Variant	rs564100581
Chromosome Location	chr7:102715610-102715611
allele	C/G/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	ELF1	chr7:102714837-102715722	A549	lung:	n/a	chr7:102715347-102715359 chr7:102715332-102715344
4	NRF1	chr7:102715084-102715698	GM12878	blood:	n/a	chr7:102715307-102715316
5	GABPA	chr7:102715371-102715683	A549	lung:	n/a	n/a
6	E2F4	chr7:102714883-102715632	MCF10A-Er-Src	breast:	n/a	chr7:102715349-102715361 chr7:102715307-102715316 chr7:102715350-102715361
7	UBTF	chr7:102714741-102716398	K562	blood:	n/a	n/a
8	POLR2A	chr7:102715453-102715825	HCT-116	colon:	n/a	n/a
9	POLR2A	chr7:102714781-102716191	K562	blood:	n/a	n/a
10	GTF2F1	chr7:102715046-102716184	H1-hESC	embryonic stem cell:	n/a	n/a
11	EP300	chr7:102714905-102715711	GM12878	blood:	n/a	chr7:102715341-102715357 chr7:102715416-102715425
12	MXI1	chr7:102714010-102717069	SK-N-SH	brain:	n/a	chr7:102715291-102715306 chr7:102715607-102715616 chr7:102715289-102715304
13	CTCF	chr7:102715460-102715610	GM12874	blood:	n/a	n/a
14	MAX	chr7:102714737-102716411	HepG2	liver:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
15	MYC	chr7:102715326-102715686	MCF10A-Er-Src	breast:	n/a	chr7:102715433-102715442
16	ETS1	chr7:102715294-102715779	GM12878	blood:	n/a	chr7:102715305-102715316
17	CTCF	chr7:102715126-102715627	IMR90	lung:	n/a	chr7:102715303-102715313 chr7:102715298-102715316
18	STAT1	chr7:102714891-102715725	GM12878	blood:	n/a	chr7:102715358-102715366 chr7:102715556-102715576 chr7:102715309-102715321
19	GABPA	chr7:102714472-102715760	SK-N-SH	brain:	n/a	chr7:102715307-102715316
20	PML	chr7:102714799-102715738	MCF-7	breast:	n/a	n/a
21	USF1	chr7:102715105-102715733	H1-hESC	embryonic stem cell:	n/a	chr7:102715272-102715288 chr7:102715606-102715617
22	CTCF	chr7:102715206-102715684	K562	blood:	n/a	chr7:102715303-102715313 chr7:102715298-102715316
23	MAX	chr7:102714872-102715754	HUVEC	blood vessel:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
24	POLR2A	chr7:102715107-102716312	GM19099	blood:	n/a	n/a
25	ZBTB7A	chr7:102715027-102715939	K562	blood:	n/a	n/a
26	MAX	chr7:102714600-102716292	ECC-1	luminal epithelium:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
27	E2F6	chr7:102714860-102715733	K562	blood:	n/a	chr7:102715349-102715361 chr7:102715307-102715316 chr7:102715709-102715719
28	TAF1	chr7:102715102-102716259	H1-hESC	embryonic stem cell:	n/a	n/a
29	RCOR1	chr7:102714952-102715637	GM12878	blood:	n/a	n/a
30	CTCF	chr7:102715357-102715743	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr7:102715485-102715689	K562	blood:	n/a	n/a
32	SMC3	chr7:102714874-102715649	K562	blood:	n/a	chr7:102715304-102715314
33	HMGN3	chr7:102714785-102715992	K562	blood:	n/a	n/a
34	TBP	chr7:102714821-102715730	GM12878	blood:	n/a	n/a
35	MYC	chr7:102714520-102716139	MCF10A-Er-Src	breast:	n/a	chr7:102714918-102714925 chr7:102714672-102714681 chr7:102715433-102715442
36	TAF1	chr7:102715381-102715692	H1-neurons	neurons:	n/a	n/a
37	SIN3AK20	chr7:102714797-102715941	PANC-1	pancreas:	n/a	n/a
38	IRF1	chr7:102715363-102715729	K562	blood:	n/a	chr7:102715566-102715580
39	POLR2A	chr7:102714569-102716479	Hela-S3	cervix:	n/a	n/a
40	USF2	chr7:102715480-102715688	HepG2	liver:	n/a	n/a
41	ATF3	chr7:102715170-102715696	K562	blood:	n/a	chr7:102715307-102715316
42	SRF	chr7:102714680-102715715	MCF-7	breast:	n/a	n/a
43	MYC	chr7:102714794-102716046	Hela-S3	cervix:	n/a	chr7:102714918-102714925 chr7:102715433-102715442
44	CTCF	chr7:102715205-102715725	K562	blood:	n/a	chr7:102715303-102715313 chr7:102715298-102715316
45	BACH1	chr7:102714954-102715637	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZC3H11A	chr7:102715108-102715642	K562	blood:	n/a	n/a
47	MYC	chr7:102715227-102715759	K562	blood:	n/a	chr7:102715433-102715442
48	POLR2A	chr7:102714714-102716938	MCF10A-Er-Src	breast:	n/a	n/a
49	YY1	chr7:102714733-102715793	SK-N-SH_RA	brain:	n/a	chr7:102715307-102715316
50	IRF1	chr7:102714825-102715740	K562	blood:	n/a	chr7:102715306-102715320 chr7:102715566-102715580 chr7:102715323-102715337

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:102715565-102715615	NB4	blood:	n/a
2	chr7:102715565-102715615	HNPCEpiC	eye:	n/a
3	chr7:102715565-102715615	GM19239	blood:	n/a
4	chr7:102715565-102715615	HUVEC	blood vessel:	n/a
5	chr7:102715565-102715615	HPAEpiC	pulmonary alveolar:	n/a
6	chr7:102715565-102715615	GM12892	blood:	n/a
7	chr7:102715565-102715615	MCF-7	breast:	n/a
8	chr7:102715565-102715615	HRCEpiC	kidney:	n/a
9	chr7:102715565-102715615	SK-N-SH_RA	brain:	n/a
10	chr7:102715565-102715615	CMK	blood:	n/a
11	chr7:102715565-102715615	Jurkat	blood:	n/a
12	chr7:102715565-102715615	H1-hESC	embryonic stem cell:	embryo
13	chr7:102715565-102715615	GM12878	blood:	n/a
14	chr7:102715565-102715615	HCPEpiC	choroid plexus:	n/a
15	chr7:102715565-102715615	AG04450	lung:	fetal
16	chr7:102715565-102715615	SAEC	small airway:	n/a
17	chr7:102715565-102715615	HCM	heart:	n/a
18	chr7:102715565-102715615	ProgFib	skin:	n/a
19	chr7:102715565-102715615	PrEC	prostate:	n/a
20	chr7:102715565-102715615	HRPEpiC	eye:	n/a
21	chr7:102715565-102715615	HEK293	kidney:	embryo
22	chr7:102715565-102715615	Caco-2	colon:	n/a
23	chr7:102715565-102715615	Hepatocyte	liver:	n/a
24	chr7:102715565-102715615	HL-60	blood:	n/a
25	chr7:102715565-102715615	RPTEC	kidney:	n/a
26	chr7:102715565-102715615	PFSK-1	brain:	n/a
27	chr7:102715565-102715615	BJ	skin:	n/a
28	chr7:102715565-102715615	AG09309	skin:	n/a
29	chr7:102715565-102715615	AoSMC	blood vessel:	n/a
30	chr7:102715565-102715615	AG09319	gingival:	n/a
31	chr7:102715565-102715615	ovcar-3	ovarian:	n/a
32	chr7:102715565-102715615	HCT-116	colon:	n/a
33	chr7:102715565-102715615	LNCaP	prostate:	n/a
34	chr7:102715565-102715615	NHDF-neo	bronchial:	n/a
35	chr7:102715565-102715615	NHBE	bronchial:	n/a
36	chr7:102715565-102715615	GM06990	blood:	n/a
37	chr7:102715565-102715615	AG10803	skin:	n/a
38	chr7:102715565-102715615	BE2_C	brain:	n/a
39	chr7:102715565-102715615	HepG2	liver:	n/a
40	chr7:102715565-102715615	SK-N-MC	brain:	n/a
41	chr7:102715565-102715615	GM12891	blood:	n/a
42	chr7:102715565-102715615	HIPEpiC	eye:	n/a
43	chr7:102715565-102715615	MCF10A-Er-Src	breast:	n/a
44	chr7:102715565-102715615	HEEpiC	esophagus:	n/a
45	chr7:102715565-102715615	HCF	heart:	n/a
46	chr7:102715565-102715615	NH-A	brain:	n/a
47	chr7:102715565-102715615	Hela-S3	cervix:	n/a
48	chr7:102715565-102715615	HAEpiC	amniotic membrane:	n/a
49	chr7:102715565-102715615	A549	lung:	n/a
50	chr7:102715565-102715615	PANC-1	pancreas:	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	chr7:102387955..102390990-chr7:102714406..102717094,4	MCF-7	breast:
8	chr7:102714451..102716302-chr7:102729810..102731727,2	MCF-7	breast:
9	chr7:102714987..102719162-chr7:102758108..102764327,6	K562	blood:
10	chr7:102388357..102390801-chr7:102713734..102717426,3	K562	blood:
11	chr7:102389494..102391981-chr7:102714130..102716680,2	MCF-7	breast:
12	chr7:102715186..102716960-chr7:102734053..102738564,5	K562	blood:
13	chr7:102714408..102716045-chr7:102987929..102989478,2	MCF-7	breast:
14	chr7:102715317..102716101-chrX:11775950..11776939,2	Hela-S3	cervix:
15	chr22:20193823..20194749-chr7:102715063..102715854,2	HCT-116	colon:
16	chr3:156878407..156879008-chr7:102715174..102716014,2	Hela-S3	cervix:
17	chr7:102713351..102719247-chr7:102725221..102729310,7	MCF-7	breast:
18	chr7:102714022..102717631-chr7:102788669..102792237,6	MCF-7	breast:
19	chr7:102714083..102716830-chr7:102726342..102727868,2	K562	blood:
20	chr7:102712172..102716042-chr7:102726342..102729326,4	K562	blood:
21	chr17:56707584..56709248-chr7:102715096..102717010,2	MCF-7	breast:
22	chr7:102613006..102614516-chr7:102715583..102717366,2	K562	blood:
23	chr16:2014658..2015448-chr7:102714835..102715649,2	HCT-116	colon:
24	chr7:102714071..102718258-chr7:102757961..102760938,3	K562	blood:
25	chr7:102715186..102716937-chr7:102734053..102736983,2	K562	blood:
26	chr7:102714786..102716772-chr7:102789401..102791256,2	MCF-7	breast:

Variant related genes	Relation type
FBXL13	TF binding region
ARMC10	TF binding region
ARMC10	CpG island
FBXL13	CpG island
ENSG00000212195	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000161048	Chromatin interaction
ENSG00000005302	Chromatin interaction
ENSG00000230257	Chromatin interaction
ENSG00000161057	Chromatin interaction
ENSG00000128536	Chromatin interaction
ENSG00000161040	Chromatin interaction
ENSG00000146776	Chromatin interaction
ENSG00000168298	Chromatin interaction
ENSG00000222011	Chromatin interaction
ENSG00000255198	Chromatin interaction
ENSG00000235354	Chromatin interaction
ENSG00000233025	Chromatin interaction
ENSG00000105819	Chromatin interaction
ENSG00000236499	Chromatin interaction
ENSG00000140988	Chromatin interaction
ENSG00000170632	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	chr7:102714200-102716200	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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