Variant report

Variant	rs73395547
Chromosome Location	chr7:98922746-98922747
allele	A/C
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	POLR2A	chr7:98922550-98923073	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr7:98922203-98924097	K562	blood:	n/a	n/a
3	YY1	chr7:98922649-98923740	H1-hESC	embryonic stem cell:	n/a	chr7:98922977-98922999 chr7:98923723-98923732 chr7:98922976-98922988 chr7:98922980-98922988 chr7:98923083-98923092 chr7:98922975-98922994
4	POLR2A	chr7:98922710-98924003	U87	brain:	n/a	n/a
5	POLR2A	chr7:98922656-98922957	HCT-116	colon:	n/a	n/a
6	POLR2A	chr7:98921519-98924152	SK-N-MC	brain:	n/a	n/a
7	NRF1	chr7:98922667-98924268	SK-N-SH	brain:	n/a	chr7:98923445-98923456 chr7:98923478-98923489 chr7:98923443-98923457 chr7:98923478-98923487 chr7:98923446-98923457 chr7:98923477-98923488 chr7:98923448-98923457 chr7:98923478-98923492 chr7:98923475-98923489 chr7:98923779-98923788 chr7:98923446-98923460 chr7:98923536-98923545 chr7:98923446-98923455
8	POLR2A	chr7:98921734-98924171	HepG2	liver:	n/a	n/a
9	POLR2A	chr7:98922666-98924250	K562	blood:	n/a	n/a
10	JUN	chr7:98922159-98924851	K562	blood:	n/a	chr7:98924136-98924143 chr7:98922377-98922386
11	MTA3	chr7:98922633-98924256	GM12878	blood:	n/a	n/a
12	ZNF263	chr7:98922690-98924071	HEK293-T-REx	kidney:	n/a	n/a
13	YY1	chr7:98922714-98923980	HepG2	liver:	n/a	chr7:98922977-98922999 chr7:98923723-98923732 chr7:98922976-98922988 chr7:98923779-98923788 chr7:98922980-98922988 chr7:98923083-98923092 chr7:98922975-98922994
14	POLR2A	chr7:98922718-98924007	H1-hESC	embryonic stem cell:	n/a	n/a
15	HCFC1	chr7:98922686-98924797	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr7:98922440-98923891	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr7:98922704-98924711	MCF10A-Er-Src	breast:	n/a	n/a
18	REST	chr7:98922701-98924102	H1-neurons	neurons:	n/a	chr7:98923076-98923089
19	MXI1	chr7:98922576-98924856	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr7:98922496-98924096	K562	blood:	n/a	n/a
21	NR2F2	chr7:98922536-98924164	K562	blood:	n/a	n/a
22	POLR2A	chr7:98922616-98923929	MCF-7	breast:	n/a	n/a
23	YY1	chr7:98922652-98923128	GM12878	blood:	n/a	chr7:98922977-98922999 chr7:98922976-98922988 chr7:98922980-98922988 chr7:98923083-98923092 chr7:98922975-98922994
24	POLR2A	chr7:98922544-98923871	MCF-7	breast:	n/a	n/a
25	POLR2A	chr7:98922028-98923872	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr7:98922648-98924026	K562	blood:	n/a	n/a
27	POLR2A	chr7:98922327-98923832	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:98912362..98913995-chr7:98921766..98923287,2	MCF-7	breast:
2	chr7:98922130..98924896-chr7:98987117..98989793,2	K562	blood:
3	chr7:98921655..98927239-chr7:98969297..98973851,7	MCF-7	breast:
4	chr7:98921250..98923226-chr7:98924796..98927676,2	MCF-7	breast:
5	chr7:98921987..98924595-chr7:99004669..99006776,2	K562	blood:

Variant related genes	Relation type
ARPC1A	TF binding region
ENSG00000130429	Chromatin interaction
ENSG00000106244	Chromatin interaction
ENSG00000106245	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10232076	0.99[ASN][1000 genomes]
rs10255399	0.81[ASN][1000 genomes]
rs10258757	0.81[ASN][1000 genomes]
rs10267346	0.89[ASN][1000 genomes]
rs10272998	0.99[ASN][1000 genomes]
rs10274407	0.99[ASN][1000 genomes]
rs10953287	0.99[ASN][1000 genomes]
rs17161677	0.80[ASN][1000 genomes]
rs17161692	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2286162	0.98[ASN][1000 genomes]
rs2301889	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28468623	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28820905	0.85[ASN][1000 genomes]
rs3779354	0.81[EUR][1000 genomes]
rs3801288	0.98[ASN][1000 genomes]
rs58660994	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59725656	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6948775	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6953476	0.99[ASN][1000 genomes]
rs6972337	0.99[ASN][1000 genomes]
rs6975099	0.99[ASN][1000 genomes]
rs73395557	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73395580	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9641253	0.98[ASN][1000 genomes]
rs9768020	0.89[ASN][1000 genomes]
rs9918551	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][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	esv3433144	chr7:98777878-99060209	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv831068	chr7:98819572-99006481	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98908400-98923000	Weak transcription	Aorta	Aorta
2	chr7:98920400-98922800	Weak transcription	Left Ventricle	heart
3	chr7:98921800-98922800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:98921800-98922800	Enhancers	Liver	Liver
5	chr7:98921800-98922800	Enhancers	Pancreas	Pancrea
6	chr7:98922200-98922800	Flanking Active TSS	HepG2	liver
7	chr7:98922200-98923200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr7:98922200-98924800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr7:98922400-98922800	Enhancers	Primary B cells from cord blood	blood
10	chr7:98922400-98922800	Enhancers	Primary B cells from peripheral blood	blood
11	chr7:98922400-98922800	Enhancers	Primary T cells fromperipheralblood	blood
12	chr7:98922400-98922800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:98922400-98922800	Weak transcription	Psoas Muscle	Psoas
14	chr7:98922400-98922800	Enhancers	Spleen	Spleen
15	chr7:98922400-98922800	Flanking Active TSS	Hela-S3	cervix
16	chr7:98922400-98923000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr7:98922400-98923000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr7:98922400-98923000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr7:98922400-98923000	Flanking Active TSS	Fetal Intestine Small	intestine
20	chr7:98922400-98923000	Flanking Active TSS	Dnd41	blood
21	chr7:98922400-98923200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr7:98922400-98923200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr7:98922400-98923400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr7:98922400-98924200	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr7:98922400-98924200	Active TSS	iPS-18 Cell Line	embryonic stem cell
26	chr7:98922400-98924400	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr7:98922400-98924400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:98922400-98924600	Active TSS	GM12878-XiMat	blood
29	chr7:98922400-98924800	Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr7:98922400-98924800	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr7:98922400-98925000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:98922400-98925000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:98922600-98922800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:98922600-98922800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:98922600-98922800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr7:98922600-98922800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:98922600-98922800	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr7:98922600-98922800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr7:98922600-98922800	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr7:98922600-98922800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:98922600-98922800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:98922600-98922800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr7:98922600-98922800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:98922600-98922800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr7:98922600-98922800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
46	chr7:98922600-98922800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr7:98922600-98922800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr7:98922600-98922800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:98922600-98922800	Enhancers	Brain Angular Gyrus	brain
50	chr7:98922600-98922800	Enhancers	Brain Anterior Caudate	brain

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