Variant report

Variant	rs6964049
Chromosome Location	chr7:98923713-98923714
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr10:79793526..79794512-chr7:98923089..98923901,2	Hela-S3	cervix:
2	chr7:98922130..98924896-chr7:98987117..98989793,2	K562	blood:
3	chr10:50746597..50747264-chr7:98923190..98924043,2	Hela-S3	cervix:
4	chr7:98901401..98904218-chr7:98922987..98925075,2	MCF-7	breast:
5	chr7:98921655..98927239-chr7:98969297..98973851,7	MCF-7	breast:
6	chr7:98739614..98743126-chr7:98922770..98926033,5	MCF-7	breast:
7	chr7:98923522..98925484-chr7:98970656..98973873,3	K562	blood:
8	chr7:98923500..98925484-chr7:98970656..98974432,3	K562	blood:
9	chr7:98474791..98477414-chr7:98923231..98924947,2	MCF-7	breast:
10	chr7:98923537..98926194-chr7:98989828..98992452,2	K562	blood:
11	chr12:122150096..122150704-chr7:98922914..98923914,2	NB4	blood:
12	chr7:98921987..98924595-chr7:99004669..99006776,2	K562	blood:
13	chr7:98923206..98924865-chr7:98971213..98972924,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130429	Chromatin interaction
ENSG00000196367	Chromatin interaction
ENSG00000258838	Chromatin interaction
ENSG00000106245	Chromatin interaction
ENSG00000198742	Chromatin interaction
ENSG00000225830	Chromatin interaction
ENSG00000188735	Chromatin interaction
ENSG00000002079	Chromatin interaction
ENSG00000138326	Chromatin interaction
ENSG00000106244	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11977673	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11978345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11978582	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12539480	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17161687	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35656351	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56937678	0.87[EUR][1000 genomes]
rs66478766	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66568021	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67546174	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67909852	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs67934834	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163167	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73163169	1.00[EUR][1000 genomes]
rs740160	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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6964049	GS1-259H13.2	cis	Thyroid	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:98922200-98924800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr7:98922400-98924200	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr7:98922400-98924200	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr7:98922400-98924400	Active TSS	iPS-20b Cell Line	embryonic stem cell
5	chr7:98922400-98924400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:98922400-98924600	Active TSS	GM12878-XiMat	blood
7	chr7:98922400-98924800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:98922400-98924800	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr7:98922400-98925000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:98922400-98925000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:98922600-98924200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr7:98922600-98924200	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr7:98922600-98924200	Active TSS	Fetal Kidney	kidney
14	chr7:98922600-98924400	Active TSS	H1 Cell Line	embryonic stem cell
15	chr7:98922600-98924400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr7:98922600-98924400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr7:98922600-98924400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:98922600-98924400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:98922600-98924400	Active TSS	K562	blood
20	chr7:98922600-98924400	Active TSS	Osteobl	bone
21	chr7:98922600-98924800	Active TSS	Pancreatic Islets	Pancreatic Islet
22	chr7:98922600-98924800	Active TSS	HSMM	muscle
23	chr7:98922600-98925200	Active TSS	NHLF	lung
24	chr7:98922600-98925400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr7:98922800-98923800	Active TSS	Primary hematopoietic stem cells	blood
26	chr7:98922800-98924200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:98922800-98924200	Active TSS	Fetal Lung	lung
28	chr7:98922800-98924200	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr7:98922800-98924200	Active TSS	Hela-S3	cervix
30	chr7:98922800-98924400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr7:98922800-98924400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:98922800-98924400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr7:98922800-98924400	Bivalent/Poised TSS	HepG2	liver
34	chr7:98922800-98924600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:98922800-98924600	Active TSS	Esophagus	oesophagus
36	chr7:98922800-98924600	Active TSS	Ovary	ovary
37	chr7:98922800-98924600	Active TSS	NHDF-Ad	bronchial
38	chr7:98922800-98924800	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr7:98922800-98925200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:98922800-98925200	Active TSS	Psoas Muscle	Psoas
41	chr7:98922800-98925200	Active TSS	A549	lung
42	chr7:98923000-98924000	Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr7:98923000-98924000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:98923000-98924200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:98923000-98924200	Active TSS	Brain Anterior Caudate	brain
46	chr7:98923000-98924200	Active TSS	Fetal Brain Male	brain
47	chr7:98923000-98924200	Active TSS	Placenta Amnion	Placenta Amnion
48	chr7:98923000-98924400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:98923000-98924400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:98923000-98924400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--

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