Variant report

Variant	rs4729513
Chromosome Location	chr7:98721097-98721098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:98719225..98722098-chr7:98723102..98725417,4	K562	blood:
2	chr7:98718671..98728659-chr7:98733886..98742869,16	K562	blood:
3	chr7:98718971..98721801-chr7:98724719..98728203,3	MCF-7	breast:
4	chr7:98709239..98711562-chr7:98720636..98722362,2	K562	blood:
5	chr7:98720366..98722217-chr7:98725786..98728134,2	K562	blood:
6	chr7:98718886..98722189-chr7:98739592..98743247,4	MCF-7	breast:
7	chr7:98720831..98724792-chr7:98728821..98732987,4	K562	blood:
8	chr7:98716689..98718971-chr7:98719738..98721392,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198742	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12112617	1.00[EUR][1000 genomes]
rs12112986	1.00[EUR][1000 genomes]
rs12113003	1.00[EUR][1000 genomes]
rs12113535	1.00[EUR][1000 genomes]
rs12113540	1.00[EUR][1000 genomes]
rs12705026	0.80[AFR][1000 genomes]
rs35614868	1.00[EUR][1000 genomes]
rs56140509	1.00[EUR][1000 genomes]
rs6975658	1.00[EUR][1000 genomes]
rs73399283	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73709536	1.00[EUR][1000 genomes]
rs73709550	1.00[EUR][1000 genomes]
rs7783504	1.00[EUR][1000 genomes]
rs7800815	1.00[EUR][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	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

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98707200-98739400	Weak transcription	Thymus	Thymus
2	chr7:98710000-98721400	Weak transcription	Esophagus	oesophagus
3	chr7:98710000-98721400	Weak transcription	Pancreas	Pancrea
4	chr7:98710000-98739200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:98710200-98721600	Weak transcription	Fetal Thymus	thymus
6	chr7:98710200-98723200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:98710200-98723200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:98710200-98723400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr7:98710400-98721400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr7:98710400-98721800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr7:98710400-98730400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr7:98711000-98723200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr7:98714400-98730600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr7:98714800-98739400	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:98715200-98721800	Weak transcription	Fetal Intestine Large	intestine
16	chr7:98717000-98731000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr7:98717400-98724200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:98717800-98721200	Weak transcription	Hela-S3	cervix
19	chr7:98717800-98721600	Weak transcription	Fetal Intestine Small	intestine
20	chr7:98718000-98722800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr7:98718000-98723200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr7:98718200-98723000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:98718200-98726200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:98718200-98728600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:98718200-98736400	Weak transcription	Dnd41	blood
26	chr7:98718400-98721600	Weak transcription	GM12878-XiMat	blood
27	chr7:98718400-98721800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:98718400-98722000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr7:98718800-98725000	Enhancers	Placenta	Placenta
30	chr7:98718800-98734800	Weak transcription	Fetal Brain Female	brain
31	chr7:98719200-98721200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:98719200-98721400	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr7:98719400-98721200	Weak transcription	Primary B cells from peripheral blood	blood
34	chr7:98719400-98721200	Weak transcription	Colon Smooth Muscle	Colon
35	chr7:98719400-98721400	Weak transcription	Primary B cells from cord blood	blood
36	chr7:98719400-98721400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr7:98719400-98721400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr7:98719400-98723200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr7:98719400-98726000	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:98719600-98721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:98719600-98721200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr7:98719600-98721200	Weak transcription	Brain Anterior Caudate	brain
43	chr7:98719600-98721200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr7:98719600-98721200	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr7:98719600-98721200	Weak transcription	Stomach Smooth Muscle	stomach
46	chr7:98719600-98721200	Weak transcription	A549	lung
47	chr7:98719600-98721200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr7:98719600-98721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr7:98719600-98721400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr7:98719600-98721400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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