Variant report

Variant	rs73711138
Chromosome Location	chr7:100180850-100180851
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100180627-100181230	K562	blood:	n/a	n/a
2	MAX	chr7:100180736-100181953	NB4	blood:	n/a	chr7:100181374-100181384
3	POLR2A	chr7:100180809-100181923	GM12892	blood:	n/a	n/a
4	MTA3	chr7:100180839-100181977	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:100177235-100180963	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:100180803-100181827	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr7:100180812-100181896	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:100180805-100181625	GM12878	blood:	n/a	n/a
9	EGR1	chr7:100180801-100181041	K562	blood:	n/a	n/a
10	MAZ	chr7:100180708-100184962	IMR90	lung:	n/a	chr7:100181374-100181384 chr7:100184537-100184547 chr7:100182041-100182051
11	POLR2A	chr7:100180813-100181844	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:100180747-100182033	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:100180704-100182049	HL-60	blood:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100080109..100082832-chr7:100180830..100183809,4	MCF-7	breast:
2	chr7:100180263..100184567-chr7:100269497..100273047,5	K562	blood:
3	chr7:100179326..100185857-chr7:100269460..100275597,19	MCF-7	breast:
4	chr7:100031924..100034212-chr7:100179842..100183716,3	MCF-7	breast:
5	chr7:100180512..100183004-chr7:100452297..100454557,2	MCF-7	breast:
6	chr7:100075021..100078361-chr7:100180649..100185937,5	MCF-7	breast:
7	chr7:100025492..100028279-chr7:100180739..100182375,3	MCF-7	breast:
8	chr7:100070743..100075629-chr7:100178965..100183270,7	K562	blood:
9	chr7:100179385..100182357-chr7:100273234..100275046,2	K562	blood:
10	chr7:100179244..100181643-chr7:100480633..100482895,2	MCF-7	breast:
11	chr7:100178369..100186125-chr7:100269651..100278553,26	MCF-7	breast:
12	chr7:100024456..100030636-chr7:100180698..100187996,13	K562	blood:
13	chr7:100024988..100028445-chr7:100180808..100186978,10	K562	blood:

No data

Variant related genes	Relation type
LRCH4	TF binding region
FBXO24	TF binding region
ENSG00000166924	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000166925	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000146828	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000087087	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs56854887	1.00[AMR][1000 genomes]
rs58742225	1.00[AMR][1000 genomes]
rs59009660	1.00[AMR][1000 genomes]
rs61385156	1.00[AMR][1000 genomes]
rs61423399	1.00[AMR][1000 genomes]
rs61679952	1.00[AMR][1000 genomes]
rs73711111	1.00[AMR][1000 genomes]
rs73711116	1.00[AMR][1000 genomes]
rs73711117	1.00[AMR][1000 genomes]
rs73711124	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
3	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
4	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
5	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
6	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
7	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
8	nsv888785	chr7:100141861-100313420	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
9	nsv888786	chr7:100159567-100313420	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
10	nsv888788	chr7:100161557-100186066	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	52 gene(s)	inside rSNPs	diseases
11	nsv831072	chr7:100162503-100362835	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
12	nsv5868	chr7:100169998-100214646	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	59 gene(s)	inside rSNPs	diseases
13	nsv607932	chr7:100172495-100182691	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	26 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	chr7:100170000-100181200	Weak transcription	Hela-S3	cervix
2	chr7:100171600-100181400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr7:100171600-100181600	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr7:100174400-100181600	Weak transcription	Psoas Muscle	Psoas
5	chr7:100178800-100181000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:100178800-100181600	Weak transcription	Fetal Kidney	kidney
7	chr7:100179000-100181200	Genic enhancers	Placenta	Placenta
8	chr7:100179400-100181000	Genic enhancers	Fetal Muscle Trunk	muscle
9	chr7:100179400-100181600	Weak transcription	Small Intestine	intestine
10	chr7:100179400-100181800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr7:100179600-100181000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:100179600-100181000	Weak transcription	Fetal Brain Male	brain
13	chr7:100179800-100181000	Genic enhancers	Fetal Muscle Leg	muscle
14	chr7:100179800-100181200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
15	chr7:100179800-100181200	Enhancers	Right Atrium	heart
16	chr7:100179800-100181200	Weak transcription	HepG2	liver
17	chr7:100179800-100181800	Genic enhancers	NHEK	skin
18	chr7:100180000-100181000	Weak transcription	Brain Angular Gyrus	brain
19	chr7:100180000-100181400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:100180000-100181400	Genic enhancers	Liver	Liver
21	chr7:100180000-100181400	Genic enhancers	Fetal Stomach	stomach
22	chr7:100180000-100181400	Weak transcription	A549	lung
23	chr7:100180000-100181600	Enhancers	Stomach Mucosa	stomach
24	chr7:100180000-100182600	Weak transcription	Aorta	Aorta
25	chr7:100180000-100182600	Enhancers	Fetal Heart	heart
26	chr7:100180000-100182600	Weak transcription	Ovary	ovary
27	chr7:100180000-100182800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr7:100180000-100183400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:100180200-100181000	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr7:100180200-100181000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:100180200-100181000	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
32	chr7:100180200-100181000	Genic enhancers	Rectal Mucosa Donor 31	rectum
33	chr7:100180200-100181000	Transcr. at gene 5' and 3'	Dnd41	blood
34	chr7:100180200-100181200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:100180200-100181200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr7:100180200-100181200	Flanking Active TSS	Primary T cells from cord blood	blood
37	chr7:100180200-100181400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:100180200-100181400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr7:100180200-100181400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr7:100180200-100181600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr7:100180200-100181800	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:100180200-100181800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr7:100180200-100182000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr7:100180200-100182000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:100180200-100183000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr7:100180200-100183400	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr7:100180400-100181000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:100180400-100181000	Weak transcription	Brain Substantia Nigra	brain
49	chr7:100180400-100181000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
50	chr7:100180400-100181000	Genic enhancers	Right Ventricle	heart

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