Variant report

Variant	rs57116449
Chromosome Location	chr7:99862067-99862068
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:99844918..99846658-chr7:99861769..99864301,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10224352	0.86[AFR][1000 genomes]
rs10225636	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245781	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10245955	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10257359	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10261440	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10268724	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10269973	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28559768	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60568054	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
2	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
3	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
4	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
5	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
6	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
7	nsv8182	chr7:99799816-99879781	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
8	nsv888774	chr7:99807265-99951315	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	esv16057	chr7:99809377-99937347	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	esv3379367	chr7:99811760-99938687	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
11	esv3379649	chr7:99812207-99939196	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
12	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
13	esv3358931	chr7:99816130-99943645	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
14	esv3405423	chr7:99816156-99943860	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
15	esv3508070	chr7:99816206-99943813	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
16	esv3508071	chr7:99816206-99943813	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
17	nsv981558	chr7:99836239-99870051	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99810600-99864000	Weak transcription	Right Atrium	heart
2	chr7:99821600-99867800	Weak transcription	Gastric	stomach
3	chr7:99823200-99862600	Weak transcription	Spleen	Spleen
4	chr7:99823800-99864200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:99831400-99864200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:99833000-99868600	Weak transcription	Primary T cells from cord blood	blood
7	chr7:99833200-99868600	Weak transcription	Thymus	Thymus
8	chr7:99840200-99863600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:99841400-99864000	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:99842000-99868400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:99845200-99868200	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr7:99845400-99863800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr7:99845400-99868200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr7:99846200-99867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:99846200-99867400	Weak transcription	Fetal Thymus	thymus
16	chr7:99846400-99863400	Weak transcription	Fetal Muscle Trunk	muscle
17	chr7:99846400-99866800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr7:99846400-99867000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr7:99846400-99868800	Weak transcription	Right Ventricle	heart
20	chr7:99846600-99866800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:99847000-99863400	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:99847000-99864200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr7:99847000-99868200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:99847200-99866000	Weak transcription	Brain Angular Gyrus	brain
25	chr7:99847200-99867800	Weak transcription	Psoas Muscle	Psoas
26	chr7:99851800-99868400	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr7:99852600-99868400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr7:99852800-99867000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:99853400-99868400	Weak transcription	Primary B cells from cord blood	blood
30	chr7:99854000-99862200	Weak transcription	Lung	lung
31	chr7:99854600-99862200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr7:99855000-99863400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr7:99857200-99867200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:99858200-99864200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr7:99858200-99868200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr7:99858400-99868400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr7:99858600-99868200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr7:99858800-99863600	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr7:99858800-99863800	Weak transcription	Brain Substantia Nigra	brain
40	chr7:99859000-99868400	Weak transcription	Esophagus	oesophagus
41	chr7:99859400-99866000	Strong transcription	Fetal Brain Female	brain
42	chr7:99859800-99864000	Weak transcription	HepG2	liver
43	chr7:99860000-99864200	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:99860600-99862400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:99860600-99866400	Strong transcription	Fetal Stomach	stomach
46	chr7:99861000-99865200	Weak transcription	Dnd41	blood
47	chr7:99861000-99866000	Weak transcription	Fetal Intestine Large	intestine
48	chr7:99861000-99867400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr7:99861200-99862400	Strong transcription	Brain Germinal Matrix	brain
50	chr7:99861400-99862600	Enhancers	Hela-S3	cervix

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