Variant report

Variant	rs9900885
Chromosome Location	chr17:38083051-38083052
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	chr17:38082655-38084861	HepG2	liver:	n/a	n/a
2	CREB1	chr17:38082660-38084602	GM12878	blood:	n/a	n/a
3	NR2C2	chr17:38082884-38083385	HepG2	liver:	n/a	chr17:38083198-38083213
4	POLR2A	chr17:38082925-38083448	GM12891	blood:	n/a	n/a
5	HNF4G	chr17:38082762-38083402	HepG2	liver:	n/a	chr17:38083206-38083218 chr17:38083206-38083218 chr17:38083206-38083218
6	TBP	chr17:38082777-38083207	HepG2	liver:	n/a	n/a
7	CTCF	chr17:38082980-38083130	GM12865	blood:	n/a	chr17:38083009-38083018 chr17:38082997-38083006
8	CTCF	chr17:38082920-38083070	GM12873	blood:	n/a	chr17:38083009-38083018 chr17:38082997-38083006
9	ELF1	chr17:38082870-38083381	HepG2	liver:	n/a	chr17:38083353-38083365
10	POLR2A	chr17:38083011-38086107	IMR90	lung:	n/a	n/a
11	HEY1	chr17:38082704-38084446	HepG2	liver:	n/a	chr17:38083885-38083900
12	UBTF	chr17:38082997-38084492	K562	blood:	n/a	n/a
13	POLR2A	chr17:38082897-38083479	HepG2	liver:	n/a	n/a
14	PML	chr17:38082686-38083384	GM12878	blood:	n/a	n/a
15	HDAC2	chr17:38082638-38083413	HepG2	liver:	n/a	n/a
16	POLR2A	chr17:38082954-38083456	GM12891	blood:	n/a	n/a
17	TBP	chr17:38082929-38083381	H1-hESC	embryonic stem cell:	n/a	n/a
18	HDAC2	chr17:38082763-38083468	HepG2	liver:	n/a	n/a
19	CHD2	chr17:38083022-38083504	H1-hESC	embryonic stem cell:	n/a	chr17:38083361-38083371
20	SP1	chr17:38082880-38083474	H1-hESC	embryonic stem cell:	n/a	chr17:38083362-38083372 chr17:38082922-38082936 chr17:38083165-38083176 chr17:38083361-38083373 chr17:38083362-38083371 chr17:38083358-38083372 chr17:38082921-38082933 chr17:38082909-38082923 chr17:38083361-38083373
21	POLR2A	chr17:38082545-38084314	GM12878	blood:	n/a	n/a
22	POLR2A	chr17:38083008-38083241	Hela-S3	cervix:	n/a	n/a
23	STAT5A	chr17:38082764-38083469	GM12878	blood:	n/a	chr17:38083356-38083368
24	CTCF	chr17:38082980-38083130	HepG2	liver:	n/a	chr17:38083009-38083018 chr17:38082997-38083006
25	POLR2A	chr17:38082407-38083485	GM12878	blood:	n/a	n/a
26	MYBL2	chr17:38082609-38083502	HepG2	liver:	n/a	n/a
27	CREB1	chr17:38082638-38084726	HepG2	liver:	n/a	n/a
28	MTA3	chr17:38082426-38085085	GM12878	blood:	n/a	n/a
29	SMARCB1	chr17:38082962-38084121	Hela-S3	cervix:	n/a	chr17:38083916-38083925 chr17:38083968-38083977
30	RXRA	chr17:38082715-38083390	HepG2	liver:	n/a	chr17:38083206-38083220
31	TAF1	chr17:38082858-38084025	HepG2	liver:	n/a	n/a
32	YY1	chr17:38082664-38084525	HepG2	liver:	n/a	chr17:38083355-38083366 chr17:38083650-38083664 chr17:38083773-38083787
33	MAX	chr17:38082999-38084779	A549	lung:	n/a	chr17:38083544-38083554 chr17:38083010-38083021
34	EP300	chr17:38082648-38083454	HepG2	liver:	n/a	n/a
35	POLR2A	chr17:38082689-38084594	GM19193	blood:	n/a	n/a
36	REST	chr17:38082850-38084254	H1-neurons	neurons:	n/a	chr17:38083350-38083363 chr17:38083773-38083783 chr17:38083495-38083505 chr17:38083620-38083633
37	POLR2A	chr17:38082695-38085190	GM18505	blood:	n/a	n/a
38	CEBPD	chr17:38082903-38083496	HepG2	liver:	n/a	n/a
39	POLR2A	chr17:38082869-38083620	H1-hESC	embryonic stem cell:	n/a	n/a
40	TAF1	chr17:38082824-38084638	H1-hESC	embryonic stem cell:	n/a	n/a
41	EGR1	chr17:38082954-38083348	K562	blood:	n/a	chr17:38083164-38083177 chr17:38083163-38083178
42	POLR2A	chr17:38082751-38083326	HL-60	blood:	n/a	n/a
43	SIN3AK20	chr17:38082980-38083306	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr17:38082598-38084553	HepG2	liver:	n/a	n/a
45	ELF1	chr17:38082728-38084133	GM12878	blood:	n/a	chr17:38083353-38083365 chr17:38083780-38083792
46	NR2F2	chr17:38082891-38083404	K562	blood:	n/a	chr17:38083198-38083213
47	FOXA1	chr17:38082683-38084111	HepG2	liver:	n/a	n/a
48	MAZ	chr17:38082781-38084482	HepG2	liver:	n/a	chr17:38083544-38083554 chr17:38083010-38083021
49	CTCF	chr17:38082980-38083130	GM12866	blood:	n/a	chr17:38083009-38083018 chr17:38082997-38083006
50	TAF1	chr17:38082815-38084083	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38063849..38066832-chr17:38082215..38084527,2	MCF-7	breast:
2	chr17:38082350..38085117-chr17:38171214..38173786,2	K562	blood:
3	chr17:38082705..38085668-chr17:38094969..38098446,5	K562	blood:
4	chr17:38082095..38085117-chr17:38171214..38173786,3	K562	blood:
5	chr17:37885255..37888241-chr17:38082917..38084897,2	K562	blood:

Variant related genes	Relation type
ORMDL3	TF binding region
ENSG00000264968	TF binding region
ENSG00000108342	Chromatin interaction
ENSG00000141741	Chromatin interaction
ENSG00000204913	Chromatin interaction
ENSG00000073605	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs13341681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13380812	1.00[AMR][1000 genomes]
rs28407584	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28409251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28432878	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28433533	0.87[AFR][1000 genomes]
rs28464000	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28494476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28498893	1.00[AMR][1000 genomes]
rs28505218	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28627663	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28661251	1.00[AMR][1000 genomes]
rs28673180	1.00[AMR][1000 genomes]
rs28714172	1.00[AMR][1000 genomes]
rs28882824	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34029479	1.00[EUR][1000 genomes]
rs61737968	1.00[AMR][1000 genomes]
rs62065168	1.00[AMR][1000 genomes]
rs62065210	1.00[AMR][1000 genomes]
rs9890508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9890819	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9893628	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9893933	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9895237	1.00[AMR][1000 genomes]
rs9896961	1.00[AMR][1000 genomes]
rs9897451	1.00[AMR][1000 genomes]
rs9897847	1.00[AMR][1000 genomes]
rs9899977	1.00[AMR][1000 genomes]
rs9911163	1.00[AMR][1000 genomes]
rs9913746	1.00[AMR][1000 genomes]
rs9914556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9916301	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492308	chr17:38033039-38204458	Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38080800-38083400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
2	chr17:38081000-38083200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
3	chr17:38081200-38083200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr17:38081200-38083400	Flanking Active TSS	Adipose Nuclei	Adipose
5	chr17:38081200-38083600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
6	chr17:38081400-38083400	Flanking Active TSS	Duodenum Mucosa	Duodenum
7	chr17:38081600-38083400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr17:38081800-38083400	Flanking Active TSS	Primary B cells from cord blood	blood
9	chr17:38081800-38083400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:38082000-38083200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
11	chr17:38082000-38083200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr17:38082000-38083200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr17:38082000-38083200	Flanking Active TSS	Dnd41	blood
14	chr17:38082200-38083200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr17:38082200-38083200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:38082200-38083200	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr17:38082200-38083200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr17:38082200-38083400	Flanking Active TSS	Placenta	Placenta
19	chr17:38082200-38083400	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr17:38082200-38083600	Flanking Active TSS	Colonic Mucosa	Colon
21	chr17:38082200-38084200	Active TSS	Thymus	Thymus
22	chr17:38082400-38083200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:38082400-38083200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
24	chr17:38082400-38083200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr17:38082400-38083200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
26	chr17:38082400-38083200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr17:38082400-38083200	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr17:38082400-38083200	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr17:38082400-38083200	Flanking Active TSS	Fetal Stomach	stomach
30	chr17:38082400-38083200	Flanking Active TSS	K562	blood
31	chr17:38082400-38083200	Flanking Active TSS	NH-A	brain
32	chr17:38082400-38083200	Flanking Active TSS	NHEK	skin
33	chr17:38082400-38083400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr17:38082400-38083400	Flanking Active TSS	Primary B cells from peripheral blood	blood
35	chr17:38082400-38083400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr17:38082400-38083400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr17:38082400-38083400	Flanking Active TSS	Brain Hippocampus Middle	brain
38	chr17:38082400-38083400	Flanking Active TSS	Fetal Brain Male	brain
39	chr17:38082400-38083400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr17:38082400-38083400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr17:38082400-38083600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr17:38082400-38084200	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr17:38082400-38084400	Active TSS	Rectal Smooth Muscle	rectum
44	chr17:38082600-38083200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
45	chr17:38082600-38083200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr17:38082600-38083200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
47	chr17:38082600-38083200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr17:38082600-38083200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
49	chr17:38082600-38083200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr17:38082600-38083200	Flanking Active TSS	Stomach Mucosa	stomach

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