Variant report

Variant	rs1636977
Chromosome Location	chr7:99812726-99812727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:99811114-99813826	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:99812380-99812840	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr7:99811896-99812769	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:99812168-99812853	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:99811637-99812933	GM12892	blood:	n/a	n/a
6	RUNX3	chr7:99812619-99812911	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:99811847-99813112	GM12892	blood:	n/a	n/a
8	POLR2A	chr7:99811356-99812857	GM12892	blood:	n/a	n/a
9	POLR2A	chr7:99811112-99813917	GM12878	blood:	n/a	n/a
10	POLR2A	chr7:99812440-99812755	MCF-7	breast:	n/a	n/a
11	FOSL2	chr7:99812415-99812832	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:99812333-99812849	GM12892	blood:	n/a	n/a
13	POLR2A	chr7:99810825-99812775	HepG2	liver:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GPC2-2	chr7:99812593-99813905	NONHSAT122347
2	lnc-GPC2-2	chr7:99812593-99812802	NONHSAT122350

Variant related genes	Relation type
ENSG00000239521	TF binding region
PVRIG	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs62482169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62482172	1.00[AFR][1000 genomes]
rs62482174	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99790000-99817000	Weak transcription	Primary neutrophils fromperipheralblood	blood
2	chr7:99796400-99813000	Weak transcription	Brain Substantia Nigra	brain
3	chr7:99796800-99816800	Weak transcription	Brain Germinal Matrix	brain
4	chr7:99796800-99817000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:99799000-99816600	Weak transcription	Fetal Brain Female	brain
6	chr7:99801400-99826000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr7:99803000-99816800	Weak transcription	Brain Angular Gyrus	brain
8	chr7:99803200-99813600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr7:99805200-99818400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:99805600-99812800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr7:99806800-99819000	Weak transcription	Fetal Lung	lung
12	chr7:99807200-99828400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:99807200-99847000	Weak transcription	Fetal Kidney	kidney
14	chr7:99807400-99815200	Weak transcription	Pancreas	Pancrea
15	chr7:99807600-99818400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr7:99808000-99815200	Enhancers	Primary B cells from cord blood	blood
17	chr7:99808400-99813600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:99809000-99813400	Weak transcription	Brain Anterior Caudate	brain
19	chr7:99809000-99817600	Weak transcription	Small Intestine	intestine
20	chr7:99809200-99813000	Enhancers	Primary T cells from cord blood	blood
21	chr7:99809200-99817600	Weak transcription	Colonic Mucosa	Colon
22	chr7:99809200-99834800	Weak transcription	HSMMtube	muscle
23	chr7:99809400-99815000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr7:99809400-99817600	Weak transcription	Spleen	Spleen
25	chr7:99809400-99818200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr7:99809600-99815000	Enhancers	Primary B cells from peripheral blood	blood
27	chr7:99809600-99815000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr7:99809600-99815200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:99809600-99816800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr7:99809600-99817600	Weak transcription	Dnd41	blood
31	chr7:99809600-99818600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr7:99809800-99813800	Enhancers	Thymus	Thymus
33	chr7:99809800-99814400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr7:99809800-99815000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr7:99809800-99815000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr7:99809800-99815000	Enhancers	Fetal Thymus	thymus
37	chr7:99810000-99813000	Weak transcription	Fetal Muscle Leg	muscle
38	chr7:99810000-99813400	Weak transcription	Fetal Stomach	stomach
39	chr7:99810000-99813600	Enhancers	GM12878-XiMat	blood
40	chr7:99810000-99814400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:99810000-99815000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr7:99810000-99815000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr7:99810600-99813800	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr7:99810600-99813800	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr7:99810600-99815200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr7:99810600-99864000	Weak transcription	Right Atrium	heart
47	chr7:99810800-99816800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:99811000-99813000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr7:99811200-99813200	Weak transcription	Brain Hippocampus Middle	brain
50	chr7:99811200-99818200	Weak transcription	Adipose Nuclei	Adipose

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