Variant report

Variant	rs35260012
Chromosome Location	chr17:38641382-38641383
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF2	chr17:38640614-38644462	Hela-S3	cervix:	n/a	n/a
2	JUND	chr17:38640307-38641473	A549	lung:	n/a	n/a
3	POLR2A	chr17:38637848-38650725	A549	lung:	n/a	n/a
4	POLR2A	chr17:38641199-38641458	A549	lung:	n/a	n/a
5	POLR2A	chr17:38639722-38641776	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr17:38639013-38641604	Hela-S3	cervix:	n/a	n/a
7	BCL3	chr17:38639720-38643973	A549	lung:	n/a	n/a
8	POLR2A	chr17:38640112-38641444	A549	lung:	n/a	n/a
9	SP1	chr17:38641347-38643891	A549	lung:	n/a	chr17:38643833-38643843 chr17:38641746-38641760 chr17:38643834-38643843 chr17:38642241-38642250 chr17:38642240-38642250 chr17:38642239-38642251
10	POLR2A	chr17:38639824-38641744	Hela-S3	cervix:	n/a	n/a
11	SIX5	chr17:38640768-38644658	A549	lung:	n/a	chr17:38642468-38642477
12	POLR2A	chr17:38638883-38645646	MCF10A-Er-Src	breast:	n/a	n/a
13	BCL3	chr17:38639648-38644407	A549	lung:	n/a	n/a
14	POLR2A	chr17:38641013-38643731	IMR90	lung:	n/a	n/a
15	TCF12	chr17:38639929-38641563	A549	lung:	n/a	n/a
16	POLR2A	chr17:38638947-38641454	Hela-S3	cervix:	n/a	n/a
17	MYC	chr17:38641310-38641462	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr17:38638060-38645729	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:38640900..38643857-chr17:38669358..38670867,2	MCF-7	breast:
2	chr17:38639003..38641951-chr17:38683883..38685651,2	MCF-7	breast:
3	chr17:38640893..38644463-chr17:38672113..38675330,4	MCF-7	breast:
4	chr17:38641070..38642777-chr17:38643354..38644884,2	K562	blood:
5	chr17:38633817..38637978-chr17:38639202..38643004,3	K562	blood:
6	chr17:38640863..38643911-chr17:38644729..38647819,3	MCF-7	breast:
7	chr15:74218995..74221163-chr17:38641031..38642876,2	MCF-7	breast:
8	chr17:38640622..38642550-chr17:38663803..38666620,2	K562	blood:
9	chr17:38638255..38640177-chr17:38640329..38642532,3	K562	blood:
10	chr17:38640983..38649598-chr17:38652430..38659338,11	MCF-7	breast:
11	chr17:38634038..38637576-chr17:38640830..38643969,3	MCF-7	breast:
12	chr17:38639539..38641673-chr17:38677366..38679503,2	K562	blood:

No data

Variant related genes	Relation type
TNS4	TF binding region
ENSG00000131746	Chromatin interaction
ENSG00000261801	Chromatin interaction
ENSG00000266088	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12942610	0.85[ASN][1000 genomes]
rs1901187	1.00[ASN][1000 genomes]
rs2290206	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2290207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34377860	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34453034	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34456044	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34879399	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764424	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214311	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8081819	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303289	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1058185	chr17:38629339-38689908	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv908224	chr17:38638251-38651447	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38627400-38646200	Weak transcription	Gastric	stomach
2	chr17:38633400-38643800	Weak transcription	Right Ventricle	heart
3	chr17:38635800-38641800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr17:38636000-38647000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr17:38636000-38648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr17:38636000-38649600	Genic enhancers	HMEC	breast
7	chr17:38636600-38642600	Weak transcription	Right Atrium	heart
8	chr17:38636800-38642000	Genic enhancers	Hela-S3	cervix
9	chr17:38637000-38643400	Enhancers	K562	blood
10	chr17:38637000-38644800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr17:38637200-38642000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr17:38637400-38642000	Strong transcription	Placenta	Placenta
13	chr17:38637400-38642200	Weak transcription	Adipose Nuclei	Adipose
14	chr17:38637400-38642400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr17:38637400-38642800	Weak transcription	Small Intestine	intestine
16	chr17:38637400-38645600	Weak transcription	Spleen	Spleen
17	chr17:38637400-38648200	Genic enhancers	NHEK	skin
18	chr17:38637600-38641400	Weak transcription	Dnd41	blood
19	chr17:38637600-38642200	Weak transcription	Fetal Thymus	thymus
20	chr17:38637600-38642600	Weak transcription	Esophagus	oesophagus
21	chr17:38638200-38642800	Weak transcription	Primary T cells from cord blood	blood
22	chr17:38638200-38646400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr17:38638400-38643200	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:38638600-38642200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr17:38638600-38646200	Weak transcription	Colonic Mucosa	Colon
26	chr17:38638800-38642600	Weak transcription	Lung	lung
27	chr17:38638800-38646000	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr17:38639200-38642600	Weak transcription	Stomach Mucosa	stomach
29	chr17:38639200-38645000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr17:38639200-38645000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr17:38639200-38645400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
32	chr17:38639200-38645400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr17:38639400-38643200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr17:38639400-38644400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:38639400-38645400	Weak transcription	Primary B cells from cord blood	blood
36	chr17:38639600-38641600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr17:38639600-38641800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr17:38639600-38644200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:38639800-38641400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr17:38639800-38641800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr17:38639800-38642000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr17:38639800-38643400	Enhancers	HepG2	liver
43	chr17:38639800-38644200	Enhancers	Placenta Amnion	Placenta Amnion
44	chr17:38640000-38641600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr17:38640000-38643200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr17:38640200-38641400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr17:38640200-38642800	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr17:38640400-38641600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr17:38640400-38643400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
50	chr17:38640600-38641600	Enhancers	Muscle Satellite Cultured Cells	--

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