Variant report

Variant	rs17867806
Chromosome Location	chr7:126893922-126893923
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	YY1	chr7:126892924-126894261	SK-N-SH_RA	brain:	n/a	chr7:126894163-126894172 chr7:126893745-126893754 chr7:126893359-126893368 chr7:126893109-126893123 chr7:126894209-126894223 chr7:126894215-126894226
2	SMC3	chr7:126893459-126894280	K562	blood:	n/a	chr7:126894160-126894170
3	CTCF	chr7:126893887-126894238	H1-hESC	embryonic stem cell:	n/a	chr7:126894124-126894145 chr7:126894129-126894147
4	MAX	chr7:126893368-126894316	MCF-7	breast:	n/a	n/a
5	CTCF	chr7:126893922-126894280	A549	lung:	n/a	chr7:126894124-126894145 chr7:126894129-126894147
6	ZBTB7A	chr7:126893791-126894486	ECC-1	luminal epithelium:	n/a	n/a
7	MAX	chr7:126892758-126894269	A549	lung:	n/a	chr7:126893252-126893262
8	YY1	chr7:126893384-126894210	ECC-1	luminal epithelium:	n/a	chr7:126894163-126894172 chr7:126893745-126893754
9	ZNF143	chr7:126893578-126894315	GM12878	blood:	n/a	n/a
10	GABPA	chr7:126893270-126894265	K562	blood:	n/a	chr7:126894199-126894208 chr7:126893745-126893754 chr7:126893359-126893368
11	YY1	chr7:126892767-126894178	SK-N-SH	brain:	n/a	chr7:126894163-126894172 chr7:126893745-126893754 chr7:126893359-126893368 chr7:126893109-126893123
12	CTCF	chr7:126893892-126894296	K562	blood:	n/a	chr7:126894124-126894145 chr7:126894129-126894147
13	CTCF	chr7:126891512-126894684	SK-N-SH	brain:	n/a	chr7:126894124-126894145 chr7:126892213-126892222 chr7:126892525-126892543 chr7:126893829-126893842 chr7:126893041-126893054 chr7:126894129-126894147 chr7:126892528-126892538 chr7:126892531-126892540 chr7:126892858-126892871
14	RAD21	chr7:126893760-126894367	H1-hESC	embryonic stem cell:	n/a	chr7:126894127-126894146
15	E2F6	chr7:126892786-126894225	H1-hESC	embryonic stem cell:	n/a	chr7:126893745-126893754 chr7:126893742-126893754 chr7:126894160-126894170 chr7:126893359-126893368 chr7:126893156-126893167 chr7:126893356-126893368 chr7:126893680-126893690
16	YY1	chr7:126893316-126894261	SK-N-SH_RA	brain:	n/a	chr7:126894163-126894172 chr7:126893745-126893754 chr7:126893359-126893368 chr7:126894209-126894223 chr7:126894215-126894226
17	E2F4	chr7:126892959-126894277	K562	blood:	n/a	chr7:126893745-126893754 chr7:126893742-126893754 chr7:126894160-126894170 chr7:126893359-126893368 chr7:126893156-126893167 chr7:126893356-126893368 chr7:126893154-126893165 chr7:126893680-126893690
18	ZBTB7A	chr7:126893540-126894460	ECC-1	luminal epithelium:	n/a	n/a
19	JUND	chr7:126893534-126894277	K562	blood:	n/a	chr7:126893711-126893720
20	HCFC1	chr7:126893817-126894316	K562	blood:	n/a	n/a
21	TAF1	chr7:126893846-126894199	H1-hESC	embryonic stem cell:	n/a	n/a
22	SMC3	chr7:126892794-126894591	SK-N-SH	brain:	n/a	chr7:126894160-126894170 chr7:126894545-126894553
23	CTCF	chr7:126893382-126894357	IMR90	lung:	n/a	chr7:126894124-126894145 chr7:126893829-126893842 chr7:126894129-126894147
24	TBP	chr7:126892933-126894191	H1-hESC	embryonic stem cell:	n/a	n/a
25	RAD21	chr7:126891840-126895028	SK-N-SH	brain:	n/a	chr7:126894675-126894688 chr7:126893040-126893054 chr7:126892861-126892873 chr7:126894127-126894146
26	CTCF	chr7:126893780-126893930	K562	blood:	n/a	chr7:126893829-126893842
27	CTCF	chr7:126893840-126893990	NHDF-neo	bronchial:	n/a	n/a
28	MAZ	chr7:126893335-126894364	K562	blood:	n/a	n/a
29	RAD21	chr7:126893711-126894329	ECC-1	luminal epithelium:	n/a	chr7:126894127-126894146
30	YY1	chr7:126893376-126894219	HepG2	liver:	n/a	chr7:126894163-126894172 chr7:126893745-126893754
31	CTCF	chr7:126893770-126894279	Gliobla	brain:	n/a	chr7:126894124-126894145 chr7:126893829-126893842 chr7:126894129-126894147
32	ZBTB7A	chr7:126893907-126894452	K562	blood:	n/a	n/a
33	MAX	chr7:126892735-126894353	A549	lung:	n/a	chr7:126893252-126893262
34	ELF1	chr7:126893563-126894295	GM12878	blood:	n/a	chr7:126893818-126893830
35	UBTF	chr7:126892792-126894068	K562	blood:	n/a	n/a
36	ZNF143	chr7:126893907-126894304	K562	blood:	n/a	n/a
37	MYC	chr7:126893342-126894056	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr7:126892708-126894324	K562	blood:	n/a	chr7:126893252-126893262
39	CTCF	chr7:126893805-126894427	HCT-116	colon:	n/a	chr7:126894124-126894145 chr7:126893829-126893842 chr7:126894129-126894147
40	PAX5	chr7:126893910-126894228	GM12892	blood:	n/a	chr7:126894144-126894153
41	CCNT2	chr7:126892999-126894318	K562	blood:	n/a	chr7:126893359-126893368 chr7:126893745-126893754
42	BHLHE40	chr7:126893553-126894248	K562	blood:	n/a	chr7:126893815-126893831
43	RAD21	chr7:126893918-126894287	K562	blood:	n/a	chr7:126894127-126894146
44	CTCF	chr7:126893790-126894290	GM19240	blood:	n/a	chr7:126894124-126894145 chr7:126893829-126893842 chr7:126894129-126894147
45	MAX	chr7:126893457-126894140	A549	lung:	n/a	n/a
46	YY1	chr7:126893354-126894255	K562	blood:	n/a	chr7:126894163-126894172 chr7:126893745-126893754 chr7:126893359-126893368 chr7:126894209-126894223 chr7:126894215-126894226
47	E2F6	chr7:126892678-126894316	H1-hESC	embryonic stem cell:	n/a	chr7:126893745-126893754 chr7:126893742-126893754 chr7:126894160-126894170 chr7:126893359-126893368 chr7:126893156-126893167 chr7:126893356-126893368 chr7:126893680-126893690
48	YY1	chr7:126893519-126893962	ECC-1	luminal epithelium:	n/a	chr7:126893745-126893754
49	FOXM1	chr7:126893825-126894347	GM12878	blood:	n/a	n/a
50	POLR2A	chr7:126892866-126894369	SK-N-MC	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:126893890-126893940	SAEC	small airway:	n/a
2	chr7:126893890-126893940	HCF	heart:	n/a
3	chr7:126893890-126893940	AG04450	lung:	fetal
4	chr7:126893890-126893940	BJ	skin:	n/a
5	chr7:126893890-126893940	NHDF-neo	bronchial:	n/a
6	chr7:126893890-126893940	SK-N-SH	brain:	n/a
7	chr7:126893890-126893940	HIPEpiC	eye:	n/a
8	chr7:126893890-126893940	NH-A	brain:	n/a
9	chr7:126893890-126893940	AG10803	skin:	n/a
10	chr7:126893890-126893940	CMK	blood:	n/a
11	chr7:126893890-126893940	PANC-1	pancreas:	n/a
12	chr7:126893890-126893940	SKMC	muscle:	n/a
13	chr7:126893890-126893940	GM12891	blood:	n/a
14	chr7:126893890-126893940	HEEpiC	esophagus:	n/a
15	chr7:126893890-126893940	GM12878	blood:	n/a
16	chr7:126893890-126893940	GM06990	blood:	n/a
17	chr7:126893890-126893940	SK-N-MC	brain:	n/a
18	chr7:126893890-126893940	AG09309	skin:	n/a
19	chr7:126893890-126893940	MCF10A-Er-Src	breast:	n/a
20	chr7:126893890-126893940	SK-N-SH_RA	brain:	n/a
21	chr7:126893890-126893940	T-47D	breast:	n/a
22	chr7:126893890-126893940	NB4	blood:	n/a
23	chr7:126893890-126893940	AG04449	skin:	fetal
24	chr7:126893890-126893940	HRPEpiC	eye:	n/a
25	chr7:126893890-126893940	Hela-S3	cervix:	n/a
26	chr7:126893890-126893940	PFSK-1	brain:	n/a
27	chr7:126893890-126893940	RPTEC	kidney:	n/a
28	chr7:126893890-126893940	GM19239	blood:	n/a
29	chr7:126893890-126893940	HEK293	kidney:	embryo
30	chr7:126893890-126893940	AoSMC	blood vessel:	n/a
31	chr7:126893890-126893940	HNPCEpiC	eye:	n/a
32	chr7:126893890-126893940	K562	blood:	n/a
33	chr7:126893890-126893940	NHBE	bronchial:	n/a
34	chr7:126893890-126893940	U87	brain:	n/a
35	chr7:126893890-126893940	HAEpiC	amniotic membrane:	n/a
36	chr7:126893890-126893940	HCPEpiC	choroid plexus:	n/a
37	chr7:126893890-126893940	Jurkat	blood:	n/a
38	chr7:126893890-126893940	ProgFib	skin:	n/a
39	chr7:126893890-126893940	ECC-1	luminal epithelium:	n/a
40	chr7:126893890-126893940	Caco-2	colon:	n/a
41	chr7:126893890-126893940	PrEC	prostate:	n/a
42	chr7:126893890-126893940	A549	lung:	n/a
43	chr7:126893890-126893940	HL-60	blood:	n/a
44	chr7:126893890-126893940	H1-hESC	embryonic stem cell:	embryo
45	chr7:126893890-126893940	GM12892	blood:	n/a
46	chr7:126893890-126893940	HPAEpiC	pulmonary alveolar:	n/a
47	chr7:126893890-126893940	LNCaP	prostate:	n/a
48	chr7:126893890-126893940	HCT-116	colon:	n/a
49	chr7:126893890-126893940	HUVEC	blood vessel:	n/a
50	chr7:126893890-126893940	IMR90	lung:	fetal

No.	Distal block	Cell Line	Cell type
1	chr7:126892951..126894660-chr7:127031651..127034423,2	MCF-7	breast:
2	chr7:126891429..126894759-chr7:127030328..127033331,3	K562	blood:
3	chr7:126892205..126895115-chr7:127030974..127032697,2	MCF-7	breast:
4	chr7:126747288..126748236-chr7:126893729..126894723,2	K562	blood:
5	chr7:126893679..126894246-chr7:127849548..127850071,2	K562	blood:
6	chr7:126884896..126891192-chr7:126891657..126895737,6	K562	blood:
7	chr7:126893732..126895403-chr7:127004899..127007535,2	K562	blood:

Variant related genes	Relation type
GRM8	TF binding region
GRM8	CpG island
ENSG00000179603	Chromatin interaction
ENSG00000048405	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10487472	1.00[CEU][hapmap]
rs12334074	1.00[CEU][hapmap]
rs17644601	0.82[CEU][hapmap]
rs17862293	0.82[CEU][hapmap]
rs17862320	0.82[CEU][hapmap]
rs17862333	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17862345	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17863211	0.82[CEU][hapmap]
rs17863242	0.85[CEU][hapmap]
rs17863257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17864127	0.82[CEU][hapmap]
rs17864160	0.85[CEU][hapmap]
rs17864165	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17864170	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17864185	1.00[CEU][hapmap]
rs17864189	1.00[CEU][hapmap]
rs17865066	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17865434	0.85[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17866153	1.00[CEU][hapmap]
rs17866314	1.00[CEU][hapmap]
rs17866414	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17866742	1.00[CEU][hapmap]
rs17866745	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17866749	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17867065	1.00[CEU][hapmap]
rs17867232	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17867759	0.82[CEU][hapmap]
rs17867764	0.82[CEU][hapmap]
rs17867770	0.82[CEU][hapmap]
rs17867809	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs17867821	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17869212	0.82[CEU][hapmap]
rs17869261	1.00[CEU][hapmap];1.00[AMR][1000 genomes]
rs17869284	1.00[CEU][hapmap]
rs17869543	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2237793	0.82[CEU][hapmap]
rs2299554	1.00[CEU][hapmap]
rs62468898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62468908	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6957728	1.00[CEU][hapmap]

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	nsv889189	chr7:126699088-126963028	Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv464712	chr7:126881029-126908258	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv608380	chr7:126881029-126908258	Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv819682	chr7:126890804-126895155	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126890200-126894400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:126890600-126894400	Active TSS	Brain Angular Gyrus	brain
3	chr7:126890800-126894400	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:126891200-126894200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr7:126891400-126894200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr7:126891400-126894200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr7:126891400-126894200	Active TSS	Brain Cingulate Gyrus	brain
8	chr7:126891400-126894200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr7:126891400-126894400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
10	chr7:126891400-126894600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr7:126891600-126894000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr7:126891600-126894200	Bivalent/Poised TSS	Thymus	Thymus
13	chr7:126891600-126894400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:126891600-126894600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:126891800-126894200	Active TSS	Aorta	Aorta
16	chr7:126891800-126894200	Bivalent/Poised TSS	HSMMtube	muscle
17	chr7:126892200-126894200	Active TSS	Psoas Muscle	Psoas
18	chr7:126892400-126894200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:126892400-126894200	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:126892400-126894200	Active TSS	Gastric	stomach
21	chr7:126892400-126894400	Active TSS	Brain Anterior Caudate	brain
22	chr7:126892600-126894200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr7:126892600-126894200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr7:126892600-126894200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr7:126892600-126894200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:126892600-126894200	Active TSS	Lung	lung
27	chr7:126892600-126894200	Active TSS	Pancreas	Pancrea
28	chr7:126892600-126894200	Active TSS	K562	blood
29	chr7:126892800-126894000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr7:126892800-126894000	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr7:126892800-126894000	Bivalent/Poised TSS	Primary T killer memory cells from peripheral blood	blood
32	chr7:126892800-126894000	Active TSS	Fetal Kidney	kidney
33	chr7:126892800-126894000	Bivalent/Poised TSS	Stomach Mucosa	stomach
34	chr7:126892800-126894000	Active TSS	NH-A	brain
35	chr7:126892800-126894200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:126892800-126894200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:126892800-126894200	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:126892800-126894200	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:126892800-126894200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:126892800-126894200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr7:126892800-126894200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr7:126892800-126894200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr7:126892800-126894200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
44	chr7:126892800-126894200	Active TSS	Breast Myoepithelial Primary Cells	Breast
45	chr7:126892800-126894200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:126892800-126894200	Active TSS	Primary T helper naive cells from peripheral blood	blood
47	chr7:126892800-126894200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
48	chr7:126892800-126894200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr7:126892800-126894200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:126892800-126894200	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--

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