Variant report

Variant	rs73399215
Chromosome Location	chr7:98638542-98638543
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:98637833-98638665	HCT-116	colon:	n/a	n/a
2	CHD1	chr7:98637683-98638573	IMR90	lung:	n/a	n/a
3	CTCF	chr7:98638460-98638610	HCT-116	colon:	n/a	n/a
4	REST	chr7:98638094-98638559	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr7:98638294-98638648	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr7:98637990-98638606	K562	blood:	n/a	n/a
7	MXI1	chr7:98637872-98638800	IMR90	lung:	n/a	n/a
8	BCL3	chr7:98637885-98638603	A549	lung:	n/a	n/a
9	POLR2A	chr7:98638473-98638544	A549	lung:	n/a	n/a
10	CTCF	chr7:98637924-98638574	MCF-7	breast:	n/a	n/a
11	POLR2A	chr7:98637763-98638614	HL-60	blood:	n/a	n/a
12	POLR2A	chr7:98637909-98638648	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:98637796-98638557	GM12878	blood:	n/a	n/a
14	REST	chr7:98638036-98638616	A549	lung:	n/a	n/a
15	REST	chr7:98638058-98638600	HL-60	blood:	n/a	n/a
16	POLR2A	chr7:98638172-98638570	MCF-7	breast:	n/a	n/a
17	POLR2A	chr7:98638397-98638693	GM12891	blood:	n/a	n/a
18	REST	chr7:98638085-98638657	PANC-1	pancreas:	n/a	n/a
19	MAZ	chr7:98637512-98638850	IMR90	lung:	n/a	chr7:98637969-98637980
20	POLR2A	chr7:98637770-98638616	SK-N-MC	brain:	n/a	n/a
21	RAD21	chr7:98637947-98638544	A549	lung:	n/a	n/a
22	POLR2A	chr7:98638445-98638608	GM12878	blood:	n/a	n/a
23	POLR2A	chr7:98637963-98638703	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr7:98637771-98638586	A549	lung:	n/a	n/a
25	MXI1	chr7:98637636-98638626	SK-N-SH	brain:	n/a	n/a
26	TCF12	chr7:98638022-98638777	A549	lung:	n/a	n/a
27	REST	chr7:98638195-98638558	HL-60	blood:	n/a	n/a
28	POLR2A	chr7:98637882-98638731	K562	blood:	n/a	n/a
29	POLR2A	chr7:98637655-98638685	K562	blood:	n/a	n/a
30	RAD21	chr7:98637971-98638675	IMR90	lung:	n/a	n/a
31	SMC3	chr7:98637301-98638795	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr7:98637034-98638640	K562	blood:	n/a	n/a
33	CTCF	chr7:98637791-98638761	A549	lung:	n/a	n/a
34	CTCF	chr7:98637884-98638615	HCT-116	colon:	n/a	n/a
35	MAX	chr7:98637831-98638650	A549	lung:	n/a	chr7:98637969-98637980
36	CTCF	chr7:98637777-98638899	SK-N-SH	brain:	n/a	n/a
37	RAD21	chr7:98637832-98638690	A549	lung:	n/a	n/a
38	RAD21	chr7:98637845-98638552	MCF-7	breast:	n/a	n/a
39	RAD21	chr7:98637341-98638785	SK-N-SH	brain:	n/a	n/a
40	RAD21	chr7:98637729-98638649	HCT-116	colon:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98636841..98639440-chr7:98921733..98924335,2	MCF-7	breast:
2	chr7:98634444..98641048-chr7:98738187..98742525,9	MCF-7	breast:
3	chr7:98637878..98638616-chr7:98910249..98911205,3	MCF-7	breast:
4	chr7:98637667..98638624-chr7:98984609..98985242,2	K562	blood:
5	chr7:98637557..98639663-chr7:98924128..98925918,2	K562	blood:
6	chr7:98638079..98641022-chr7:98641303..98643730,2	K562	blood:
7	chr7:98637215..98638756-chr7:98910212..98911215,8	K562	blood:

No data

Variant related genes	Relation type
ENSG00000242687	TF binding region
ENSG00000198742	Chromatin interaction
ENSG00000241685	Chromatin interaction
ENSG00000242687	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57715526	0.84[AFR][1000 genomes]
rs58148575	0.84[AFR][1000 genomes]
rs58713239	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60391457	0.84[AFR][1000 genomes]
rs73395107	0.84[AFR][1000 genomes]
rs73395140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73397292	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73399244	1.00[AMR][1000 genomes]
rs73399262	1.00[AMR][1000 genomes]
rs73399266	1.00[AMR][1000 genomes]
rs73399277	1.00[AMR][1000 genomes]

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	nsv1024529	chr7:98194830-98793518	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv539036	chr7:98194830-98793518	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	esv1847495	chr7:98556216-98648069	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1034506	chr7:98556216-98678440	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr7:98583800-98648800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr7:98623400-98640200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr7:98624800-98644200	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:98624800-98651200	Strong transcription	Primary hematopoietic stem cells	blood
5	chr7:98624800-98653000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
6	chr7:98624800-98655200	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr7:98624800-98656600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:98624800-98656600	Strong transcription	Dnd41	blood
9	chr7:98624800-98657800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr7:98624800-98658400	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr7:98625000-98655000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:98625000-98656400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
13	chr7:98625000-98656600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:98625000-98656600	Strong transcription	Fetal Thymus	thymus
15	chr7:98625200-98655200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr7:98625200-98655400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr7:98625200-98658800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:98625400-98639400	Strong transcription	Colon Smooth Muscle	Colon
19	chr7:98625400-98639600	Strong transcription	NHEK	skin
20	chr7:98625400-98639800	Strong transcription	Placenta Amnion	Placenta Amnion
21	chr7:98625400-98640000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:98625400-98642000	Strong transcription	Thymus	Thymus
23	chr7:98625400-98644200	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr7:98625400-98655000	Strong transcription	Primary B cells from cord blood	blood
25	chr7:98625400-98655200	Strong transcription	Primary T cells from cord blood	blood
26	chr7:98625400-98655200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr7:98625400-98655200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr7:98625400-98655200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:98625400-98657800	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:98625600-98639400	Strong transcription	Right Ventricle	heart
31	chr7:98625600-98640400	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr7:98625600-98652400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr7:98625600-98652600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:98625600-98658800	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr7:98625800-98639800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr7:98626000-98641800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr7:98626000-98656400	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr7:98626200-98656400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr7:98626600-98659200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:98626800-98641600	Strong transcription	Primary T helper naive cells from peripheral blood	blood
41	chr7:98628000-98655200	Strong transcription	Brain Germinal Matrix	brain
42	chr7:98628000-98656400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr7:98628000-98658800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:98628200-98640600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:98628200-98650400	Strong transcription	Fetal Lung	lung
46	chr7:98628200-98651600	Strong transcription	HSMM	muscle
47	chr7:98628200-98652400	Strong transcription	Fetal Brain Female	brain
48	chr7:98628200-98655200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:98628200-98656400	Strong transcription	HSMMtube	muscle
50	chr7:98628200-98656600	Strong transcription	Left Ventricle	heart

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