Variant report

Variant	rs72836617
Chromosome Location	chr17:38276243-38276244
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr17:38276095-38276934	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr17:38275179-38278647	SK-N-MC	brain:	n/a	n/a
3	POLR2A	chr17:38275989-38276956	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr17:38275268-38276826	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:38207226..38209173-chr17:38275974..38278338,2	K562	blood:
2	chr17:38274376..38281367-chr17:38331383..38338006,23	MCF-7	breast:
3	chr17:38275824..38279709-chr17:38496937..38502326,5	K562	blood:
4	chr17:38255433..38258713-chr17:38276171..38280451,4	K562	blood:
5	chr17:38252517..38259251-chr17:38276179..38282890,16	MCF-7	breast:
6	chr17:38274785..38277489-chr17:38323556..38326542,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NR1D1-1	chr17:38276065-38277620	XLOC_012467
2	lnc-NR1D1-1	chr17:38275466-38277989	NONHSAT053517

No data

Variant related genes	Relation type
MSL1	TF binding region
ENSG00000265666	Chromatin interaction
ENSG00000126368	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000108349	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12939262	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35102205	1.00[AMR][1000 genomes]
rs72836629	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908221	chr17:38216522-38289003	Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
3	nsv528369	chr17:38256693-38289003	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38270000-38276600	Weak transcription	Right Atrium	heart
2	chr17:38270200-38276400	Weak transcription	Colonic Mucosa	Colon
3	chr17:38270200-38277000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr17:38270200-38277200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr17:38270400-38276400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr17:38270400-38276400	Weak transcription	Brain Hippocampus Middle	brain
7	chr17:38270400-38276600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr17:38270400-38276600	Weak transcription	Spleen	Spleen
9	chr17:38270400-38276800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr17:38270400-38277000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr17:38270400-38277000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr17:38270400-38277200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr17:38270400-38277200	Weak transcription	Primary T cells from cord blood	blood
14	chr17:38270400-38277400	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr17:38270600-38276400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr17:38270600-38276400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr17:38270600-38276800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:38270800-38276400	Weak transcription	Right Ventricle	heart
19	chr17:38271000-38276400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr17:38271000-38276400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:38271000-38276400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr17:38271000-38276400	Weak transcription	Psoas Muscle	Psoas
23	chr17:38271000-38276600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:38271000-38276600	Weak transcription	Dnd41	blood
25	chr17:38271000-38276600	Weak transcription	HMEC	breast
26	chr17:38271000-38276600	Weak transcription	HUVEC	blood vessel
27	chr17:38271000-38276600	Weak transcription	NHEK	skin
28	chr17:38271000-38276800	Weak transcription	GM12878-XiMat	blood
29	chr17:38271200-38276400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr17:38271200-38276600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr17:38271200-38276600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr17:38271400-38276400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr17:38271400-38276400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr17:38271400-38276600	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr17:38271400-38276600	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr17:38271400-38276600	Weak transcription	HSMM	muscle
37	chr17:38271600-38276400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr17:38271600-38276400	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr17:38271600-38276400	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr17:38271600-38276400	Weak transcription	Osteobl	bone
41	chr17:38271600-38276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr17:38271600-38276600	Weak transcription	Rectal Smooth Muscle	rectum
43	chr17:38271600-38276600	Weak transcription	NHLF	lung
44	chr17:38271600-38276800	Weak transcription	Stomach Mucosa	stomach
45	chr17:38271600-38277400	Weak transcription	Pancreas	Pancrea
46	chr17:38271800-38276400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr17:38271800-38276400	Weak transcription	Fetal Lung	lung
48	chr17:38271800-38276600	Weak transcription	A549	lung
49	chr17:38271800-38276600	Weak transcription	NH-A	brain
50	chr17:38271800-38277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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