Variant report

Variant	rs542403515
Chromosome Location	chr17:33945419-33945420
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	ESR1	chr17:33945282-33945598	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr17:33945258-33946083	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:33942629..33946842-chr17:33950583..33953394,3	K562	blood:
2	chr17:33945134..33947432-chr17:33947574..33949899,2	MCF-7	breast:
3	chr17:33942997..33945980-chr17:33946523..33950492,3	K562	blood:
4	chr17:33940042..33942067-chr17:33943790..33945473,2	K562	blood:

Variant related genes	Relation type
AP2B1	TF binding region
ENSG00000006125	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534371	chr17:33456878-34094068	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
2	nsv908079	chr17:33849869-34034851	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
3	nsv1060890	chr17:33884124-34011034	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
4	nsv543318	chr17:33884124-34011034	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
5	nsv1062793	chr17:33944732-33976685	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:33915600-33954600	Weak transcription	Small Intestine	intestine
2	chr17:33916800-34001200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr17:33920600-33969800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr17:33920800-33975800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr17:33921000-33946200	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr17:33921000-33946600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr17:33921000-34024400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:33926000-33955200	Weak transcription	Pancreas	Pancrea
9	chr17:33926800-33952600	Weak transcription	Fetal Brain Male	brain
10	chr17:33931000-34040200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:33933000-33967400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr17:33933000-33997800	Weak transcription	Esophagus	oesophagus
13	chr17:33933600-33952800	Weak transcription	Brain Substantia Nigra	brain
14	chr17:33933600-33967400	Weak transcription	Gastric	stomach
15	chr17:33934200-33945600	Strong transcription	K562	blood
16	chr17:33935000-33951400	Weak transcription	Brain Angular Gyrus	brain
17	chr17:33935600-33953000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr17:33935600-33953400	Weak transcription	HSMMtube	muscle
19	chr17:33936000-33953800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr17:33936800-33956800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr17:33937000-33951000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr17:33937000-33951400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr17:33937000-33951400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr17:33937000-33951800	Weak transcription	HepG2	liver
25	chr17:33937200-33947000	Weak transcription	Placenta	Placenta
26	chr17:33937200-33951200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr17:33937200-33951400	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr17:33937400-33951400	Weak transcription	Ovary	ovary
29	chr17:33937400-33965000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:33938200-33953200	Weak transcription	Colonic Mucosa	Colon
31	chr17:33938400-33951400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr17:33938600-33946800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr17:33938600-33950600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr17:33938600-33951000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:33938600-33951000	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr17:33938600-33951200	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr17:33938600-33951400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr17:33938600-33951400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr17:33938600-33951400	Weak transcription	Brain Cingulate Gyrus	brain
40	chr17:33938600-33952000	Weak transcription	Fetal Brain Female	brain
41	chr17:33938600-33952800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr17:33938600-33953400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr17:33938600-33953600	Weak transcription	Spleen	Spleen
44	chr17:33938600-33954600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr17:33938800-33951600	Weak transcription	Brain Germinal Matrix	brain
46	chr17:33939000-33953800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr17:33939400-33951400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr17:33939600-33951400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr17:33939800-33951400	Weak transcription	Liver	Liver
50	chr17:33939800-33951400	Weak transcription	Brain Anterior Caudate	brain

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