Variant report

Variant	rs34967960
Chromosome Location	chr7:50346694-50346695
allele	A/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	ZBTB33	chr7:50346482-50346828	GM12878	blood:	n/a	n/a
2	TBP	chr7:50346192-50347582	K562	blood:	n/a	n/a
3	MYC	chr7:50346075-50347609	K562	blood:	n/a	chr7:50346561-50346571
4	ZNF143	chr7:50346188-50346694	GM12878	blood:	n/a	n/a
5	STAT3	chr7:50346658-50346783	MCF10A-Er-Src	breast:	n/a	n/a
6	MXI1	chr7:50346126-50347159	K562	blood:	n/a	n/a
7	TBL1XR1	chr7:50346635-50347612	K562	blood:	n/a	n/a
8	MYC	chr7:50346502-50347576	K562	blood:	n/a	chr7:50346561-50346571
9	IRF1	chr7:50345735-50347563	K562	blood:	n/a	n/a
10	CHD1	chr7:50345801-50348984	GM12878	blood:	n/a	n/a
11	RFX5	chr7:50346547-50346937	K562	blood:	n/a	n/a
12	NFIC	chr7:50345877-50347301	GM12878	blood:	n/a	n/a
13	MAFK	chr7:50346688-50347651	K562	blood:	n/a	chr7:50347514-50347530 chr7:50347511-50347527 chr7:50347186-50347200 chr7:50347512-50347523 chr7:50347185-50347201 chr7:50347183-50347203 chr7:50347182-50347197
14	MAX	chr7:50345708-50347563	NB4	blood:	n/a	chr7:50346561-50346571
15	POLR2A	chr7:50345612-50349306	HL-60	blood:	n/a	n/a
16	MAZ	chr7:50346225-50347494	K562	blood:	n/a	n/a
17	UBTF	chr7:50346662-50347220	K562	blood:	n/a	n/a
18	RUNX3	chr7:50345918-50347233	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:50346266-50350494	Raji	blood:	n/a	n/a
20	POLR2A	chr7:50343739-50350920	GM12891	blood:	n/a	n/a
21	MAX	chr7:50346436-50346703	K562	blood:	n/a	chr7:50346561-50346571
22	WRNIP1	chr7:50346108-50349128	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:50346053-50347308	HL-60	blood:	n/a	n/a
24	TBL1XR1	chr7:50346423-50346760	K562	blood:	n/a	n/a
25	UBTF	chr7:50345843-50349128	K562	blood:	n/a	n/a
26	BACH1	chr7:50346620-50346820	K562	blood:	n/a	n/a
27	MXI1	chr7:50346058-50347619	GM12878	blood:	n/a	n/a
28	POLR2A	chr7:50343378-50352747	GM12878	blood:	n/a	n/a
29	TEAD4	chr7:50345783-50347838	K562	blood:	n/a	chr7:50345844-50345853
30	CUX1	chr7:50346343-50347766	K562	blood:	n/a	n/a
31	EP300	chr7:50346627-50347660	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:50345709-50348424	PBDE	blood:	n/a	n/a
33	CEBPB	chr7:50346218-50347013	K562	blood:	n/a	chr7:50346468-50346481 chr7:50346778-50346791

No.	Distal block	Cell Line	Cell type
1	chr7:6487063..6487748-chr7:50346632..50347207,2	NB4	blood:
2	chr7:50345514..50347628-chr7:50434884..50437361,2	MCF-7	breast:
3	chr7:50245054..50247899-chr7:50345747..50347380,2	K562	blood:
4	chr7:50313753..50316737-chr7:50346108..50348567,2	K562	blood:
5	chr7:50345029..50346765-chr7:50447263..50449300,2	K562	blood:

Variant related genes	Relation type
IKZF1	TF binding region
ENSG00000235620	Chromatin interaction
ENSG00000164535	Chromatin interaction
ENSG00000185811	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12718255	1.00[AMR][1000 genomes]
rs12718258	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12718259	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12718262	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12718263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223971	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13225200	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs13238273	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34049075	1.00[AMR][1000 genomes]
rs34175022	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34181857	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34243680	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34258132	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34311116	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34484271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34856226	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34861102	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34919759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34920847	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34936043	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34971464	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35019961	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35042793	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35048559	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35064086	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35295940	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35420653	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs35456567	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35487792	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35661691	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35680007	1.00[AMR][1000 genomes]
rs35803603	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35928979	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35946624	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35985210	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs36039109	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6955602	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6962406	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6963347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6963656	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6965399	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6979359	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71538375	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71538376	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71538377	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71538378	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs71538384	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs71538385	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781824	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811173	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464444	chr7:49671882-50454736	Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv606897	chr7:49671883-50454736	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv498090	chr7:49708644-50427714	Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv1020869	chr7:49712860-50457544	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv1024102	chr7:50195864-50418159	Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50343200-50347200	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
2	chr7:50343200-50347400	Active TSS	Primary T helper naive cells from peripheral blood	blood
3	chr7:50343200-50347600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:50343400-50347000	Active TSS	Primary T cells fromperipheralblood	blood
5	chr7:50343400-50347000	Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr7:50343400-50347000	Active TSS	GM12878-XiMat	blood
7	chr7:50343400-50347200	Active TSS	Primary B cells from peripheral blood	blood
8	chr7:50343400-50347200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr7:50343400-50347400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:50343400-50347400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
11	chr7:50343400-50347400	Active TSS	Fetal Thymus	thymus
12	chr7:50343400-50347400	Active TSS	K562	blood
13	chr7:50343400-50347600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr7:50343400-50347800	Active TSS	Primary T killer memory cells from peripheral blood	blood
15	chr7:50343400-50348200	Active TSS	Thymus	Thymus
16	chr7:50343800-50346800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
17	chr7:50344000-50348400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:50344400-50347200	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr7:50344800-50347400	Active TSS	Brain Hippocampus Middle	brain
20	chr7:50345200-50348400	Weak transcription	Spleen	Spleen
21	chr7:50345400-50346800	Active TSS	Rectal Mucosa Donor 31	rectum
22	chr7:50345400-50347200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
23	chr7:50345400-50347400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr7:50345400-50347800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr7:50345400-50351000	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:50345800-50347000	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr7:50346000-50349000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
28	chr7:50346000-50350400	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr7:50346000-50353000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:50346200-50346800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr7:50346200-50347800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:50346200-50350800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr7:50346400-50346800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:50346400-50346800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
35	chr7:50346400-50346800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr7:50346400-50347600	Active TSS	Duodenum Mucosa	Duodenum
37	chr7:50346400-50348000	Weak transcription	Colonic Mucosa	Colon
38	chr7:50346400-50348200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr7:50346400-50350600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
40	chr7:50346600-50347200	Flanking Active TSS	Dnd41	blood
41	chr7:50346600-50349600	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--

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