Variant report

Variant	rs4135034
Chromosome Location	chr17:38459000-38459001
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	CTCF	chr17:38458960-38459110	HFF-Myc	foreskin:	n/a	n/a
2	RAD21	chr17:38458825-38461385	SK-N-SH	brain:	n/a	chr17:38459432-38459442 chr17:38459430-38459443 chr17:38459432-38459444 chr17:38459427-38459446 chr17:38459431-38459440
3	POLR2A	chr17:38458942-38461260	H1-hESC	embryonic stem cell:	n/a	n/a
4	EP300	chr17:38458817-38461269	SK-N-SH	brain:	n/a	chr17:38459874-38459887
5	POLR2A	chr17:38458775-38462061	PFSK-1	brain:	n/a	n/a
6	SMC3	chr17:38458798-38461207	SK-N-SH	brain:	n/a	chr17:38459428-38459442
7	CTCF	chr17:38458833-38461008	A549	lung:	n/a	chr17:38459427-38459443 chr17:38459426-38459444 chr17:38459428-38459449 chr17:38459431-38459441
8	CTCF	chr17:38458940-38460875	SK-N-SH	brain:	n/a	chr17:38459427-38459443 chr17:38459426-38459444 chr17:38459428-38459449 chr17:38459431-38459441
9	POLR2A	chr17:38458998-38461101	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:38458898..38461237-chr17:38499745..38502287,2	K562	blood:
2	chr17:38442854..38446302-chr17:38456093..38459908,5	K562	blood:
3	chr17:38288101..38290586-chr17:38457763..38460423,2	K562	blood:
4	chr17:38457066..38460899-chr17:38504442..38513119,13	K562	blood:
5	chr17:38455293..38459575-chr17:38570214..38574368,4	MCF-7	breast:
6	chr17:38452834..38455610-chr17:38456098..38459250,4	K562	blood:
7	chr17:38455598..38459655-chr17:38495961..38498468,3	K562	blood:
8	chr17:38288101..38290395-chr17:38457503..38459263,2	K562	blood:
9	chr17:38456693..38459299-chr17:38572579..38575149,3	MCF-7	breast:
10	chr17:38456318..38459056-chr17:38610641..38612349,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000270145	TF binding region
ENSG00000094804	Chromatin interaction
ENSG00000188895	Chromatin interaction
ENSG00000131759	Chromatin interaction
ENSG00000131747	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12937995	1.00[MEX][hapmap]
rs34530029	1.00[MEX][hapmap]
rs4135015	1.00[TSI][hapmap]

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	nsv1058194	chr17:38457226-38502453	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38444600-38459400	Weak transcription	Brain Angular Gyrus	brain
2	chr17:38444600-38459400	Weak transcription	Spleen	Spleen
3	chr17:38444600-38459600	Weak transcription	Brain Anterior Caudate	brain
4	chr17:38444600-38459600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr17:38444600-38459600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:38444800-38459200	Weak transcription	Fetal Intestine Large	intestine
7	chr17:38444800-38459400	Weak transcription	Fetal Kidney	kidney
8	chr17:38444800-38459400	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr17:38444800-38459600	Weak transcription	Right Ventricle	heart
10	chr17:38444800-38459600	Weak transcription	Stomach Smooth Muscle	stomach
11	chr17:38444800-38462600	Weak transcription	Esophagus	oesophagus
12	chr17:38445000-38459600	Weak transcription	Colonic Mucosa	Colon
13	chr17:38445400-38459400	Weak transcription	Primary T cells from cord blood	blood
14	chr17:38445400-38459400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr17:38445600-38459600	Weak transcription	Primary B cells from cord blood	blood
16	chr17:38445600-38460200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr17:38445600-38462600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:38446000-38459400	Strong transcription	Fetal Thymus	thymus
19	chr17:38446000-38461000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr17:38447000-38459200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr17:38447000-38459200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr17:38447000-38459600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:38447000-38459600	Weak transcription	Placenta	Placenta
24	chr17:38447200-38459200	Weak transcription	Liver	Liver
25	chr17:38447200-38459400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:38447400-38459200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr17:38447400-38459200	Strong transcription	A549	lung
28	chr17:38447800-38459200	Weak transcription	Fetal Lung	lung
29	chr17:38448600-38460000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr17:38449200-38460200	Strong transcription	HepG2	liver
31	chr17:38449400-38459000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr17:38449400-38459200	Strong transcription	K562	blood
33	chr17:38449800-38459000	Strong transcription	HMEC	breast
34	chr17:38450800-38461200	Strong transcription	Dnd41	blood
35	chr17:38452400-38459000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr17:38452400-38459400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr17:38452600-38459600	Weak transcription	Brain Germinal Matrix	brain
38	chr17:38452600-38459800	Weak transcription	Fetal Brain Female	brain
39	chr17:38452600-38460800	Strong transcription	H1 Cell Line	embryonic stem cell
40	chr17:38452600-38461000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr17:38452800-38459600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr17:38452800-38461400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr17:38452800-38461400	Strong transcription	HUES64 Cell Line	embryonic stem cell
44	chr17:38453000-38459600	Weak transcription	Rectal Mucosa Donor 29	rectum
45	chr17:38453000-38461000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr17:38453000-38462600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr17:38453200-38459400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
48	chr17:38453200-38459400	Weak transcription	Adipose Nuclei	Adipose
49	chr17:38453200-38459600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr17:38453400-38461200	Strong transcription	iPS-18 Cell Line	embryonic stem cell

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