Variant report

Variant	rs374744582
Chromosome Location	chr17:38347755-38347756
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38277920..38280919-chr17:38344747..38347808,3	MCF-7	breast:
2	chr17:38346506..38348012-chr17:38375510..38377087,2	MCF-7	breast:
3	chr17:38330070..38334400-chr17:38346938..38351108,4	K562	blood:
4	chr17:38343298..38345399-chr17:38347624..38349920,2	MCF-7	breast:
5	chr17:38343572..38346037-chr17:38346737..38348238,2	K562	blood:
6	chr17:38268818..38270189-chr17:38347742..38348733,4	K562	blood:

Variant related genes	Relation type
ENSG00000188895	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000171475	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	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
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv3413265	chr17:38346576-38348974	Active TSS Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 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	chr17:38335200-38347800	Weak transcription	Small Intestine	intestine
2	chr17:38338000-38349800	Weak transcription	Dnd41	blood
3	chr17:38341000-38347800	Weak transcription	NHEK	skin
4	chr17:38346000-38348000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr17:38346400-38348000	Enhancers	Fetal Heart	heart
6	chr17:38346600-38347800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr17:38346800-38348200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr17:38346800-38348200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr17:38346800-38348400	Flanking Active TSS	H1 Cell Line	embryonic stem cell
10	chr17:38346800-38348400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr17:38346800-38348600	Enhancers	Fetal Brain Male	brain
12	chr17:38347000-38347800	Enhancers	Fetal Kidney	kidney
13	chr17:38347000-38348000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
14	chr17:38347000-38348200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr17:38347000-38348200	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
16	chr17:38347000-38348200	Active TSS	Duodenum Mucosa	Duodenum
17	chr17:38347000-38348200	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr17:38347000-38348400	Enhancers	Stomach Mucosa	stomach
19	chr17:38347200-38347800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:38347200-38347800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
21	chr17:38347200-38347800	Active TSS	Rectal Mucosa Donor 29	rectum
22	chr17:38347200-38347800	Active TSS	Stomach Smooth Muscle	stomach
23	chr17:38347200-38347800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
24	chr17:38347200-38348000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr17:38347200-38348000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr17:38347200-38348000	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr17:38347200-38348000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr17:38347200-38348000	Active TSS	Brain Anterior Caudate	brain
29	chr17:38347200-38348000	Active TSS	Fetal Intestine Small	intestine
30	chr17:38347200-38348000	Active TSS	Gastric	stomach
31	chr17:38347200-38348000	Active TSS	HepG2	liver
32	chr17:38347200-38348000	Flanking Active TSS	HUVEC	blood vessel
33	chr17:38347200-38348200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr17:38347200-38348200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:38347200-38348200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr17:38347200-38348200	Active TSS	Primary T cells from cord blood	blood
37	chr17:38347200-38348200	Active TSS	Rectal Smooth Muscle	rectum
38	chr17:38347200-38348200	Active TSS	NHDF-Ad	bronchial
39	chr17:38347400-38347800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr17:38347400-38347800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr17:38347400-38347800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr17:38347400-38347800	Active TSS	GM12878-XiMat	blood
43	chr17:38347400-38347800	Active TSS	NHLF	lung
44	chr17:38347400-38348000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr17:38347400-38348000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:38347400-38348000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr17:38347400-38348000	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr17:38347400-38348000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr17:38347400-38348000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr17:38347400-38348000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood

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