Variant report

Variant	rs73718216
Chromosome Location	chr7:104657226-104657227
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	GATA3	chr7:104657023-104657279	SH-SY5Y	brain:	n/a	n/a
2	POLR2A	chr7:104649871-104658724	K562	blood:	n/a	n/a
3	TEAD4	chr7:104652582-104657299	K562	blood:	n/a	n/a
4	REST	chr7:104652414-104658680	H1-neurons	neurons:	n/a	chr7:104655971-104655980 chr7:104655344-104655354 chr7:104653526-104653539
5	CHD1	chr7:104650715-104657296	GM12878	blood:	n/a	n/a
6	POLR2A	chr7:104657009-104657619	IMR90	lung:	n/a	n/a
7	ARID3A	chr7:104656943-104657412	HepG2	liver:	n/a	n/a
8	IRF1	chr7:104651664-104657495	K562	blood:	n/a	chr7:104652192-104652212 chr7:104653598-104653607 chr7:104657052-104657069 chr7:104656077-104656087 chr7:104652632-104652642 chr7:104653674-104653687 chr7:104657055-104657068 chr7:104652628-104652642 chr7:104651982-104651994
9	MXI1	chr7:104649971-104659449	SK-N-SH	brain:	n/a	n/a
10	CHD1	chr7:104650096-104658695	IMR90	lung:	n/a	n/a
11	TBL1XR1	chr7:104655151-104658648	K562	blood:	n/a	n/a
12	ARID3A	chr7:104655680-104658095	K562	blood:	n/a	n/a
13	KAP1	chr7:104656073-104657581	K562	blood:	n/a	n/a
14	POLR2A	chr7:104657167-104657522	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:104656084..104658297-chr7:104716625..104719072,2	K562	blood:
2	chr7:104656560..104659009-chr7:104771324..104773152,2	K562	blood:
3	chr7:104656538..104658551-chr7:104696151..104698175,2	K562	blood:
4	chr7:104649592..104657753-chr7:104694428..104703365,16	MCF-7	breast:
5	chr7:104524458..104526068-chr7:104657025..104659232,2	K562	blood:
6	chr7:104656560..104659427-chr7:104771652..104774442,2	K562	blood:

Variant related genes	Relation type
LINC01004	TF binding region
KMT2E-AS1	TF binding region
ENSG00000135250	Chromatin interaction
ENSG00000005483	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs55638165	1.00[AMR][1000 genomes]
rs55715849	1.00[AMR][1000 genomes]
rs56162214	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56361562	1.00[AMR][1000 genomes]
rs56890093	1.00[AMR][1000 genomes]
rs56966676	1.00[AMR][1000 genomes]
rs57051326	1.00[AMR][1000 genomes]
rs57160311	1.00[AMR][1000 genomes]
rs57402653	1.00[AMR][1000 genomes]
rs58404848	1.00[AMR][1000 genomes]
rs60436179	1.00[AMR][1000 genomes]
rs61102011	1.00[AMR][1000 genomes]
rs61280887	1.00[AMR][1000 genomes]
rs61285225	1.00[AMR][1000 genomes]
rs73421710	1.00[AMR][1000 genomes]
rs73715406	1.00[AMR][1000 genomes]
rs73715440	1.00[AMR][1000 genomes]
rs73715442	1.00[AMR][1000 genomes]
rs73715443	1.00[AMR][1000 genomes]
rs73715444	1.00[AMR][1000 genomes]
rs73715445	1.00[AMR][1000 genomes]
rs73715447	1.00[AMR][1000 genomes]
rs73715450	1.00[AMR][1000 genomes]
rs73716461	1.00[AMR][1000 genomes]
rs73716462	1.00[AMR][1000 genomes]
rs73716469	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73716471	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717956	1.00[AMR][1000 genomes]
rs73717964	1.00[AMR][1000 genomes]
rs73718215	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718217	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718218	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73718222	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104648600-104658800	Active TSS	Ovary	ovary
2	chr7:104649000-104657400	Active TSS	Colonic Mucosa	Colon
3	chr7:104649200-104659000	Active TSS	Right Ventricle	heart
4	chr7:104649400-104658800	Active TSS	Aorta	Aorta
5	chr7:104649400-104659400	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr7:104649600-104658600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:104649600-104658800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:104649600-104659600	Active TSS	NHLF	lung
9	chr7:104649800-104657600	Active TSS	Fetal Stomach	stomach
10	chr7:104649800-104657600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr7:104649800-104658200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr7:104649800-104658600	Active TSS	Left Ventricle	heart
13	chr7:104650000-104658000	Active TSS	Duodenum Mucosa	Duodenum
14	chr7:104650000-104658600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:104650000-104658600	Active TSS	Psoas Muscle	Psoas
16	chr7:104650200-104658000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr7:104650400-104657400	Active TSS	Fetal Intestine Small	intestine
18	chr7:104650400-104657800	Active TSS	H1 Cell Line	embryonic stem cell
19	chr7:104650600-104658800	Active TSS	Primary T cells fromperipheralblood	blood
20	chr7:104650800-104657600	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr7:104650800-104660800	Active TSS	GM12878-XiMat	blood
22	chr7:104651000-104657400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:104651000-104657400	Active TSS	Thymus	Thymus
24	chr7:104651000-104657600	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr7:104651000-104658000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:104651000-104658200	Active TSS	HSMMtube	muscle
27	chr7:104651000-104658400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
28	chr7:104651000-104660000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:104651200-104657400	Active TSS	HMEC	breast
30	chr7:104651200-104657600	Active TSS	Brain Angular Gyrus	brain
31	chr7:104651200-104657600	Active TSS	Brain Anterior Caudate	brain
32	chr7:104651200-104657600	Active TSS	Brain Hippocampus Middle	brain
33	chr7:104651200-104657600	Active TSS	Fetal Muscle Leg	muscle
34	chr7:104651200-104658600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr7:104651400-104657400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:104651400-104657400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr7:104651400-104657400	Active TSS	Fetal Thymus	thymus
38	chr7:104651400-104657600	Active TSS	Stomach Mucosa	stomach
39	chr7:104651400-104657800	Active TSS	Muscle Satellite Cultured Cells	--
40	chr7:104651400-104658200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:104651400-104658200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr7:104651400-104658400	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr7:104651400-104658800	Active TSS	NHDF-Ad	bronchial
44	chr7:104651600-104657600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:104651600-104657600	Active TSS	Fetal Kidney	kidney
46	chr7:104651600-104658200	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr7:104651600-104658200	Active TSS	Brain Substantia Nigra	brain
48	chr7:104651600-104659200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:104651800-104657400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
50	chr7:104652000-104657400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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