Variant report

Variant	rs73498913
Chromosome Location	chr7:140703409-140703410
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOXA1	chr7:140702893-140703425	HepG2	liver:	n/a	n/a
2	ARID3A	chr7:140703154-140703586	HepG2	liver:	n/a	n/a
3	POLR2A	chr7:140703315-140703550	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:140701817-140703904	MCF10A-Er-Src	breast:	n/a	n/a
5	FOXA1	chr7:140703077-140703465	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:140703249-140703414	HepG2	liver:	n/a	n/a
7	HNF4A	chr7:140703264-140703500	HepG2	liver:	n/a	n/a
8	HDAC2	chr7:140703166-140703438	HepG2	liver:	n/a	n/a
9	FOXA1	chr7:140703087-140703450	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140701133..140705248-chr7:140712773..140716152,4	K562	blood:
2	chr7:140701510..140704472-chr7:140705422..140707944,2	MCF-7	breast:
3	chr7:140700390..140704443-chr7:140712773..140714840,3	K562	blood:
4	chr7:140702442..140704379-chr7:140707606..140710163,3	K562	blood:
5	chr7:140701629..140704089-chr7:140709964..140711981,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BRAF-2	chr7:140702410-140704649	ENSG00000273081.1

No data

Variant related genes	Relation type
CCT4P1	TF binding region
ENSG00000090263	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73494533	1.00[AMR][1000 genomes]
rs73494544	1.00[AMR][1000 genomes]
rs73502787	1.00[AMR][1000 genomes]
rs73502789	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	nsv1017980	chr7:140601863-140721368	Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
2	nsv1030195	chr7:140615828-140746345	Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv1026448	chr7:140636599-140716829	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140698400-140705400	Weak transcription	Fetal Lung	lung
2	chr7:140698600-140713000	Weak transcription	Psoas Muscle	Psoas
3	chr7:140699000-140704000	Enhancers	Fetal Intestine Large	intestine
4	chr7:140699400-140703800	Enhancers	Fetal Intestine Small	intestine
5	chr7:140699600-140713800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:140700400-140703800	Enhancers	Liver	Liver
7	chr7:140700600-140705600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr7:140700800-140703800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr7:140701000-140706600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:140701200-140705600	Weak transcription	Small Intestine	intestine
11	chr7:140701400-140713400	Weak transcription	NHLF	lung
12	chr7:140702000-140704800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:140702000-140705200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:140702000-140705400	Weak transcription	Primary B cells from peripheral blood	blood
15	chr7:140702000-140705400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr7:140702000-140707400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:140702000-140709200	Weak transcription	Fetal Kidney	kidney
18	chr7:140702200-140705200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:140702200-140705400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr7:140702200-140705600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:140702400-140705400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr7:140702400-140705600	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr7:140702600-140703800	Flanking Active TSS	HepG2	liver
24	chr7:140702600-140705600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:140702800-140713200	Weak transcription	HSMMtube	muscle
26	chr7:140703000-140703600	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr7:140703000-140704800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr7:140703000-140705200	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr7:140703000-140705400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:140703000-140705600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr7:140703000-140705600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:140703200-140703800	Enhancers	Pancreas	Pancrea
33	chr7:140703200-140704800	Weak transcription	Fetal Brain Female	brain
34	chr7:140703200-140704800	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:140703200-140705000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
36	chr7:140703200-140705200	Weak transcription	Stomach Smooth Muscle	stomach
37	chr7:140703200-140705800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr7:140703200-140709400	Weak transcription	HSMM	muscle
39	chr7:140703200-140713800	Weak transcription	Stomach Mucosa	stomach
40	chr7:140703400-140703600	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr7:140703400-140705000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:140703400-140705000	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr7:140703400-140705000	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:140703400-140705200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr7:140703400-140705200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:140703400-140705200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr7:140703400-140705600	Weak transcription	Left Ventricle	heart
48	chr7:140703400-140705800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr7:140703400-140705800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr7:140703400-140706000	Weak transcription	K562	blood

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