Variant report

Variant	rs73695442
Chromosome Location	chr8:96281883-96281884
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	MAFF	chr8:96281624-96282843	K562	blood:	n/a	n/a
2	IRF4	chr8:96281416-96282218	GM12878	blood:	n/a	n/a
3	ARID3A	chr8:96281485-96282681	K562	blood:	n/a	chr8:96282168-96282184
4	HEY1	chr8:96280995-96282433	HepG2	liver:	n/a	chr8:96281241-96281256
5	ELK1	chr8:96281220-96282503	K562	blood:	n/a	n/a
6	ZC3H11A	chr8:96281648-96282636	K562	blood:	n/a	n/a
7	SIN3A	chr8:96280710-96282538	H1-hESC	embryonic stem cell:	n/a	chr8:96281619-96281627 chr8:96281191-96281202
8	MYBL2	chr8:96281009-96282485	HepG2	liver:	n/a	n/a
9	POLR2A	chr8:96281057-96282699	PBDE	blood:	n/a	n/a
10	TEAD4	chr8:96280975-96282628	K562	blood:	n/a	n/a
11	MYC	chr8:96281352-96282256	K562	blood:	n/a	chr8:96281719-96281735 chr8:96281536-96281545
12	NFIC	chr8:96281192-96282568	GM12878	blood:	n/a	n/a
13	POLR2A	chr8:96280639-96282505	MCF-7	breast:	n/a	n/a
14	STAT3	chr8:96281826-96282698	MCF10A-Er-Src	breast:	n/a	chr8:96282314-96282321
15	POLR2A	chr8:96280733-96282556	GM19099	blood:	n/a	n/a
16	TRIM28	chr8:96281279-96282309	K562	blood:	n/a	n/a
17	RELA	chr8:96280765-96282444	GM10847	blood:	n/a	n/a
18	MYC	chr8:96281180-96282587	K562	blood:	n/a	chr8:96281719-96281735 chr8:96281536-96281545
19	CEBPB	chr8:96281547-96282443	HepG2	liver:	n/a	chr8:96282246-96282257 chr8:96282248-96282259
20	YY1	chr8:96280967-96282424	K562	blood:	n/a	chr8:96281242-96281253 chr8:96281193-96281202
21	MAX	chr8:96280771-96282508	MCF-7	breast:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
22	TAF1	chr8:96280993-96282460	SK-N-SH	brain:	n/a	n/a
23	SPI1	chr8:96281843-96282045	K562	blood:	n/a	n/a
24	CTCF	chr8:96281483-96282404	K562	blood:	n/a	n/a
25	UBTF	chr8:96281154-96281985	K562	blood:	n/a	n/a
26	POLR2A	chr8:96281009-96282158	GM12891	blood:	n/a	n/a
27	POLR2A	chr8:96281039-96282129	GM12891	blood:	n/a	n/a
28	MYC	chr8:96280791-96282464	Hela-S3	cervix:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
29	FOXP2	chr8:96280999-96282149	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr8:96280775-96282011	A549	lung:	n/a	n/a
31	POLR2A	chr8:96280729-96282519	GM18526	blood:	n/a	n/a
32	MAZ	chr8:96280405-96282448	Hela-S3	cervix:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
33	TCF3	chr8:96281846-96282031	GM12878	blood:	n/a	n/a
34	MAX	chr8:96280696-96282275	H1-hESC	embryonic stem cell:	n/a	chr8:96281719-96281735 chr8:96281141-96281150 chr8:96281536-96281545
35	HA-E2F1	chr8:96280562-96282388	MCF-7	breast:	n/a	chr8:96282082-96282091 chr8:96281518-96281527
36	EP300	chr8:96281371-96282275	HepG2	liver:	n/a	n/a
37	ZBTB33	chr8:96281245-96282216	A549	lung:	n/a	n/a
38	USF1	chr8:96281224-96282273	A549	lung:	n/a	n/a
39	POLR2A	chr8:96280997-96282558	K562	blood:	n/a	n/a
40	FOSL2	chr8:96281603-96282145	A549	lung:	n/a	n/a
41	POLR2A	chr8:96281770-96282059	A549	lung:	n/a	n/a
42	POLR2A	chr8:96281009-96282174	GM12892	blood:	n/a	n/a
43	JUND	chr8:96281816-96282004	HepG2	liver:	n/a	n/a
44	POLR2A	chr8:96280985-96282152	GM12891	blood:	n/a	n/a
45	TEAD4	chr8:96281579-96282327	A549	lung:	n/a	n/a
46	TCF7L2	chr8:96281013-96282405	PANC-1	pancreas:	n/a	n/a
47	MAFK	chr8:96281385-96282507	K562	blood:	n/a	chr8:96281869-96281880 chr8:96282100-96282111 chr8:96281869-96281880
48	POLR2A	chr8:96281006-96282458	ECC-1	luminal epithelium:	n/a	n/a
49	CTCF	chr8:96281600-96281907	Spleen_OC	spleen:	n/a	n/a
50	POLR2A	chr8:96280996-96282085	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:54909734..54911738-chr8:96280729..96282427,2	MCF-7	breast:
2	chr8:96111950..96115004-chr8:96279819..96283605,3	MCF-7	breast:
3	chr8:96140207..96143129-chr8:96281545..96283235,2	MCF-7	breast:
4	chr8:95651016..95653604-chr8:96280429..96282986,2	MCF-7	breast:
5	chr2:61244154..61244948-chr8:96281339..96281903,2	Hela-S3	cervix:
6	chr8:96262492..96264147-chr8:96281511..96283438,2	MCF-7	breast:
7	chr8:95834579..95836869-chr8:96281817..96284598,2	K562	blood:
8	chr8:95907099..95910081-chr8:96279389..96285203,6	K562	blood:
9	chr8:96144909..96147734-chr8:96280323..96283069,4	K562	blood:
10	chr14:70232370..70233879-chr8:96280749..96282540,2	MCF-7	breast:
11	chr8:95835507..95837268-chr8:96280531..96283343,2	MCF-7	breast:
12	chr8:95907501..95911346-chr8:96279945..96283030,5	MCF-7	breast:
13	chr20:3776660..3777368-chr8:96281076..96281913,2	HCT-116	colon:
14	chr12:92538830..92539812-chr8:96281362..96282131,2	Hela-S3	cervix:
15	chr8:95906455..95910081-chr8:96279389..96281894,5	K562	blood:
16	chr8:96044471..96047276-chr8:96280162..96282608,2	MCF-7	breast:
17	chr8:95960086..95962162-chr8:96280907..96282894,2	MCF-7	breast:
18	chr8:96082478..96088281-chr8:96279501..96283230,8	MCF-7	breast:
19	chr8:96143208..96147491-chr8:96279441..96282856,8	MCF-7	breast:
20	chr2:97521965..97524958-chr8:96280956..96282974,2	MCF-7	breast:
21	chr8:96142341..96149648-chr8:96278644..96282772,12	MCF-7	breast:
22	chr8:96279721..96282098-chr8:97246962..97249259,2	MCF-7	breast:

Variant related genes	Relation type
C8orf37	TF binding region
ENSG00000153933	Chromatin interaction
ENSG00000104413	Chromatin interaction
ENSG00000164941	Chromatin interaction
ENSG00000156467	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000175895	Chromatin interaction
ENSG00000133639	Chromatin interaction
ENSG00000162927	Chromatin interaction
ENSG00000245080	Chromatin interaction
ENSG00000164938	Chromatin interaction
ENSG00000162928	Chromatin interaction
ENSG00000101224	Chromatin interaction
ENSG00000175305	Chromatin interaction
ENSG00000261437	Chromatin interaction
ENSG00000214226	Chromatin interaction
ENSG00000245904	Chromatin interaction
ENSG00000100650	Chromatin interaction
ENSG00000254224	Chromatin interaction
ENSG00000213337	Chromatin interaction
ENSG00000156170	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs73695433	0.87[AFR][1000 genomes]
rs73695435	0.87[AFR][1000 genomes]
rs73695436	0.87[AFR][1000 genomes]
rs73695437	0.87[AFR][1000 genomes]
rs73695438	0.87[AFR][1000 genomes]
rs73695439	0.87[AFR][1000 genomes]
rs73695447	1.00[AFR][1000 genomes]
rs7814173	0.87[AFR][1000 genomes]
rs7815085	0.87[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023866	chr8:96273255-96306378	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 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	chr8:96280000-96282400	Active TSS	Brain Angular Gyrus	brain
2	chr8:96280200-96282800	Active TSS	Brain Germinal Matrix	brain
3	chr8:96280400-96282400	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr8:96280400-96282400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:96280400-96282400	Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr8:96280400-96282400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr8:96280400-96282400	Active TSS	Fetal Brain Female	brain
8	chr8:96280400-96282400	Active TSS	HUVEC	blood vessel
9	chr8:96280400-96282400	Active TSS	NHLF	lung
10	chr8:96280400-96282600	Active TSS	Duodenum Mucosa	Duodenum
11	chr8:96280400-96282600	Active TSS	Fetal Heart	heart
12	chr8:96280400-96282600	Active TSS	HMEC	breast
13	chr8:96280400-96282800	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr8:96280400-96282800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr8:96280400-96282800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr8:96280400-96282800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:96280400-96282800	Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr8:96280400-96282800	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr8:96280400-96282800	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr8:96280400-96282800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:96280400-96282800	Active TSS	Muscle Satellite Cultured Cells	--
22	chr8:96280400-96282800	Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr8:96280400-96282800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:96280400-96282800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:96280400-96282800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:96280400-96282800	Active TSS	Fetal Intestine Large	intestine
27	chr8:96280400-96282800	Active TSS	Fetal Kidney	kidney
28	chr8:96280400-96282800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr8:96280400-96282800	Active TSS	Fetal Lung	lung
30	chr8:96280400-96282800	Active TSS	Left Ventricle	heart
31	chr8:96280400-96282800	Active TSS	Psoas Muscle	Psoas
32	chr8:96280400-96282800	Active TSS	Rectal Smooth Muscle	rectum
33	chr8:96280400-96282800	Active TSS	Right Atrium	heart
34	chr8:96280400-96282800	Active TSS	A549	lung
35	chr8:96280400-96283000	Active TSS	H1 Cell Line	embryonic stem cell
36	chr8:96280400-96283000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr8:96280400-96283000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr8:96280400-96283000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr8:96280400-96283000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr8:96280400-96283200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:96280400-96283200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr8:96280400-96283200	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr8:96280600-96282200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr8:96280600-96282600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr8:96280600-96282600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr8:96280600-96282600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:96280600-96282600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr8:96280600-96282600	Active TSS	Brain Substantia Nigra	brain
49	chr8:96280600-96282600	Active TSS	Lung	lung
50	chr8:96280600-96282600	Active TSS	Osteobl	bone

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