Variant report

Variant	rs73699841
Chromosome Location	chr7:65957223-65957224
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:65956881-65957239	HepG2	liver:	n/a	n/a
2	POLR2A	chr7:65957023-65957300	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:65957036-65957308	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:65955495-65959617	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr7:65957188-65959928	K562	blood:	n/a	n/a
6	POLR2A	chr7:65957032-65959515	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SBDS-5	chr7:65956996-65957326	ENSG00000223473
2	lnc-SBDS-5	chr7:65956408-65958553	NONHSAT121189
3	lnc-SBDS-5	chr7:65956765-65957326	NONHSAT121190

No data

Variant related genes	Relation type
ENSG00000230189	TF binding region
ENSG00000244510	TF binding region
ENSG00000237310	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs59302629	1.00[AFR][1000 genomes]
rs59516379	1.00[AFR][1000 genomes]
rs73699791	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv1035107	chr7:65814901-66114919	Genic enhancers Strong transcription ZNF genes & repeats Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv538909	chr7:65814901-66114919	Strong transcription Weak transcription Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	nsv888326	chr7:65825257-66066999	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv482441	chr7:65885824-66061788	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv1027068	chr7:65901543-65991211	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
8	esv3447484	chr7:65909457-66033145	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
9	esv3377926	chr7:65934493-66051484	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
10	nsv888327	chr7:65938980-66029429	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	esv3423847	chr7:65941210-66054107	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
12	nsv981508	chr7:65941357-65958736	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65879200-65957600	Weak transcription	Psoas Muscle	Psoas
2	chr7:65905600-65957600	Weak transcription	Fetal Lung	lung
3	chr7:65911400-65957800	Weak transcription	Aorta	Aorta
4	chr7:65917000-65957800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr7:65925000-65957600	Weak transcription	Left Ventricle	heart
6	chr7:65927600-65957600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr7:65931200-65957600	Weak transcription	Right Ventricle	heart
8	chr7:65931400-65957800	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr7:65935800-65957600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr7:65937200-65957600	Weak transcription	HSMMtube	muscle
11	chr7:65937600-65958000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr7:65937800-65957600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:65937800-65957800	Weak transcription	Fetal Kidney	kidney
14	chr7:65937800-65957800	Weak transcription	Small Intestine	intestine
15	chr7:65938200-65957600	Weak transcription	HSMM	muscle
16	chr7:65938800-65957600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr7:65939200-65957600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr7:65939400-65957600	Weak transcription	Brain Germinal Matrix	brain
19	chr7:65940400-65957600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:65940600-65957400	Weak transcription	Pancreas	Pancrea
21	chr7:65940600-65957600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr7:65940800-65957600	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:65940800-65957600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr7:65941000-65957400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:65941000-65957600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr7:65941000-65957600	Weak transcription	Spleen	Spleen
27	chr7:65941400-65957600	Weak transcription	Colon Smooth Muscle	Colon
28	chr7:65941600-65957600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr7:65942800-65957600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr7:65943400-65957400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr7:65943400-65957600	Weak transcription	GM12878-XiMat	blood
32	chr7:65943600-65957600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr7:65943800-65957400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr7:65944000-65957600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr7:65944200-65957400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:65944200-65957400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr7:65944200-65957600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr7:65944200-65957600	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr7:65944200-65957800	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:65944400-65957600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr7:65944400-65957600	Weak transcription	Primary B cells from cord blood	blood
42	chr7:65944400-65957600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:65944600-65957600	Weak transcription	Brain Angular Gyrus	brain
44	chr7:65945200-65957400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr7:65945200-65957600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr7:65945200-65957600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr7:65945200-65957600	Weak transcription	Lung	lung
48	chr7:65945400-65957400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr7:65945400-65957600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr7:65945600-65957400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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