Variant report

Variant	rs7177266
Chromosome Location	chr15:76195940-76195941
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	REST	chr15:76195938-76196259	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr15:76195850-76196491	HCT-116	colon:	n/a	n/a
3	TCF12	chr15:76195851-76196427	GM12878	blood:	n/a	n/a
4	MYBL2	chr15:76195750-76196408	HepG2	liver:	n/a	n/a
5	CHD2	chr15:76195748-76196797	Hela-S3	cervix:	n/a	n/a
6	GTF2F1	chr15:76195886-76197054	K562	blood:	n/a	n/a
7	SP1	chr15:76195881-76196388	HepG2	liver:	n/a	chr15:76196170-76196180 chr15:76196170-76196180
8	POLR2A	chr15:76195763-76197010	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr15:76195776-76197047	H1-neurons	neurons:	n/a	n/a
10	ETS1	chr15:76195675-76196869	A549	lung:	n/a	chr15:76196189-76196205 chr15:76196193-76196202 chr15:76196193-76196204 chr15:76196193-76196202 chr15:76196186-76196202 chr15:76196191-76196200 chr15:76196193-76196202 chr15:76196190-76196203 chr15:76196455-76196466 chr15:76196193-76196202 chr15:76196194-76196204 chr15:76196193-76196202
11	POLR2A	chr15:76195932-76196575	A549	lung:	n/a	n/a
12	POLR2A	chr15:76195852-76196956	GM15510	blood:	n/a	n/a
13	POLR2A	chr15:76195371-76196922	GM12878	blood:	n/a	n/a
14	TAF1	chr15:76195590-76197030	MCF-7	breast:	n/a	n/a
15	RCOR1	chr15:76195929-76196838	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:76195864-76196675	A549	lung:	n/a	n/a
17	SIN3AK20	chr15:76195864-76196407	A549	lung:	n/a	n/a
18	POLR2A	chr15:76195607-76197040	GM12892	blood:	n/a	n/a
19	SP1	chr15:76195716-76196641	HCT-116	colon:	n/a	chr15:76196170-76196180 chr15:76196450-76196464 chr15:76196170-76196180
20	POLR2A	chr15:76195223-76196997	GM12891	blood:	n/a	n/a
21	USF1	chr15:76195891-76196478	A549	lung:	n/a	chr15:76196202-76196218
22	POLR2A	chr15:76195821-76196671	Gliobla	brain:	n/a	n/a
23	MYBL2	chr15:76195822-76197042	HepG2	liver:	n/a	n/a
24	TAF1	chr15:76195712-76196980	ECC-1	luminal epithelium:	n/a	n/a
25	SP1	chr15:76195936-76196419	H1-hESC	embryonic stem cell:	n/a	chr15:76196170-76196180 chr15:76196170-76196180
26	POLR2A	chr15:76195933-76196505	GM12891	blood:	n/a	n/a
27	EP300	chr15:76195774-76197018	K562	blood:	n/a	chr15:76196505-76196521 chr15:76196194-76196201
28	MAX	chr15:76195797-76196976	GM12878	blood:	n/a	n/a
29	NFIC	chr15:76195930-76196575	HepG2	liver:	n/a	n/a
30	SIN3AK20	chr15:76195834-76197112	A549	lung:	n/a	n/a
31	POLR2A	chr15:76195810-76197015	H1-hESC	embryonic stem cell:	n/a	n/a
32	POLR2A	chr15:76195826-76197120	H1-hESC	embryonic stem cell:	n/a	n/a
33	SP4	chr15:76195835-76196494	H1-hESC	embryonic stem cell:	n/a	chr15:76196169-76196185 chr15:76196167-76196183
34	SIN3AK20	chr15:76195939-76196540	K562	blood:	n/a	n/a
35	TBP	chr15:76195923-76196471	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr15:76195218-76197048	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr15:76195616-76196652	U87	brain:	n/a	n/a
38	KAP1	chr15:76195889-76197000	U2OS	brain:	n/a	n/a
39	BCLAF1	chr15:76195854-76196553	GM12878	blood:	n/a	chr15:76196222-76196235 chr15:76196193-76196202
40	ZBTB33	chr15:76195886-76196508	A549	lung:	n/a	n/a
41	MXI1	chr15:76195868-76197023	HepG2	liver:	n/a	n/a
42	GABPA	chr15:76195807-76196498	K562	blood:	n/a	n/a
43	POLR2A	chr15:76195791-76197027	SK-N-SH	brain:	n/a	n/a
44	RCOR1	chr15:76195739-76197040	K562	blood:	n/a	n/a
45	REST	chr15:76195911-76196328	HepG2	liver:	n/a	n/a
46	WRNIP1	chr15:76195495-76197072	GM12878	blood:	n/a	n/a
47	USF1	chr15:76195908-76196536	ECC-1	luminal epithelium:	n/a	chr15:76196202-76196218
48	PAX5	chr15:76195930-76197145	GM12878	blood:	n/a	n/a
49	CEBPD	chr15:76195937-76196455	K562	blood:	n/a	n/a
50	TAF1	chr15:76195854-76196998	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:76195569..76197871-chr15:76205442..76207733,2	K562	blood:
2	chr15:76195585..76196140-chr6:139718203..139718704,2	MCF-7	breast:
3	chr15:76135404..76137728-chr15:76192925..76195968,4	K562	blood:
4	chr15:75109652..75112640-chr15:76193633..76196409,2	K562	blood:
5	chr15:76135493..76137289-chr15:76195431..76198634,3	MCF-7	breast:
6	chr15:76195569..76197871-chr15:76204617..76208764,4	K562	blood:
7	chr15:38544112..38545065-chr15:76195734..76196719,2	Hela-S3	cervix:
8	chr15:76134186..76138083-chr15:76192925..76200499,13	K562	blood:
9	chr15:76194745..76198135-chr15:76223912..76227637,3	MCF-7	breast:
10	chr15:76133681..76139746-chr15:76193985..76199740,23	MCF-7	breast:
11	chr15:76195600..76196343-chr17:75283023..75283994,2	Hela-S3	cervix:
12	chr15:76195094..76197177-chr15:76350015..76352498,2	K562	blood:

Variant related genes	Relation type
FBXO22	TF binding region
ENSG00000169758	Chromatin interaction
ENSG00000167196	Chromatin interaction
ENSG00000184640	Chromatin interaction
ENSG00000140506	Chromatin interaction
ENSG00000140367	Chromatin interaction
ENSG00000169752	Chromatin interaction
ENSG00000166068	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10444856	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10851884	0.85[EUR][1000 genomes]
rs11072562	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11072566	0.85[EUR][1000 genomes]
rs11072567	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11636251	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12437816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12593806	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1874953	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1976748	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2047866	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2201917	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28525382	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs28550045	0.82[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28607641	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs335685	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4886466	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4886748	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886755	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531903	chr15:75889302-76342128	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv1044733	chr15:76120924-76228880	Flanking Active TSS Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 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	chr15:76194800-76197200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr15:76195000-76196000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr15:76195200-76196000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr15:76195200-76196000	Flanking Active TSS	Liver	Liver
5	chr15:76195200-76196800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:76195200-76196800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:76195200-76197200	Active TSS	Brain Anterior Caudate	brain
8	chr15:76195400-76196000	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr15:76195400-76196000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr15:76195400-76196000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr15:76195400-76196000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr15:76195400-76196000	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr15:76195400-76196000	Weak transcription	Spleen	Spleen
14	chr15:76195400-76196800	Active TSS	Duodenum Mucosa	Duodenum
15	chr15:76195400-76197000	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr15:76195400-76197200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr15:76195400-76197200	Active TSS	Fetal Kidney	kidney
18	chr15:76195400-76197200	Active TSS	NHLF	lung
19	chr15:76195400-76197400	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr15:76195400-76197400	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr15:76195400-76197400	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr15:76195400-76197400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:76195400-76197400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr15:76195400-76197600	Active TSS	H9 Cell Line	embryonic stem cell
25	chr15:76195600-76196000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
26	chr15:76195600-76196000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr15:76195600-76196000	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr15:76195600-76196000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr15:76195600-76196000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr15:76195600-76196000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr15:76195600-76196000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr15:76195600-76196000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:76195600-76196000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr15:76195600-76196000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr15:76195600-76196000	Active TSS	Brain Germinal Matrix	brain
36	chr15:76195600-76196000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr15:76195600-76196000	Flanking Active TSS	Fetal Heart	heart
38	chr15:76195600-76196000	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr15:76195600-76196000	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr15:76195600-76196000	Flanking Active TSS	Placenta	Placenta
41	chr15:76195600-76196000	Flanking Active TSS	Fetal Thymus	thymus
42	chr15:76195600-76196000	Flanking Active TSS	Rectal Smooth Muscle	rectum
43	chr15:76195600-76196000	Flanking Active TSS	Thymus	Thymus
44	chr15:76195600-76196000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr15:76195600-76196800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr15:76195600-76196800	Active TSS	Colonic Mucosa	Colon
47	chr15:76195600-76196800	Active TSS	Fetal Brain Male	brain
48	chr15:76195600-76196800	Active TSS	Left Ventricle	heart
49	chr15:76195600-76196800	Active TSS	Psoas Muscle	Psoas
50	chr15:76195600-76197000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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