Variant report

Variant	rs4603620
Chromosome Location	chr17:60135396-60135397
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:60111472..60113607-chr17:60133776..60136191,2	MCF-7	breast:
2	chr17:60118121..60121524-chr17:60132689..60136079,4	K562	blood:
3	chr17:60018036..60020087-chr17:60133824..60135422,2	MCF-7	breast:
4	chr17:60131533..60136089-chr17:60136212..60137998,4	MCF-7	breast:
5	chr17:60108114..60110987-chr17:60135242..60137203,2	K562	blood:
6	chr17:56735242..56737749-chr17:60133777..60136292,2	MCF-7	breast:
7	chr17:60020965..60024852-chr17:60134621..60138471,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	Chromatin interaction
ENSG00000108510	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs7215446	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062816	chr17:60074670-60470465	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
2	esv2753884	chr17:60077852-60190630	Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	esv2755037	chr17:60086508-60386211	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	esv3415630	chr17:60124819-60401635	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 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	chr17:60077200-60136800	Strong transcription	Fetal Thymus	thymus
2	chr17:60098600-60139200	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr17:60099400-60139000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr17:60108000-60141400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:60108800-60139000	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr17:60109000-60141200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr17:60110600-60139800	Weak transcription	Spleen	Spleen
8	chr17:60111200-60140200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr17:60111400-60138400	Weak transcription	Fetal Brain Male	brain
10	chr17:60111400-60140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr17:60111400-60141400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr17:60115000-60140000	Weak transcription	Gastric	stomach
13	chr17:60116000-60139800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:60116200-60139800	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr17:60116600-60139000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr17:60117200-60136800	Strong transcription	Primary B cells from peripheral blood	blood
17	chr17:60117400-60139200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr17:60119800-60136800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr17:60120600-60136800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:60121600-60136800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:60124000-60136800	Weak transcription	Fetal Heart	heart
22	chr17:60124200-60135400	Weak transcription	Right Atrium	heart
23	chr17:60124200-60139200	Weak transcription	Right Ventricle	heart
24	chr17:60126200-60141600	Weak transcription	Esophagus	oesophagus
25	chr17:60126600-60136600	Weak transcription	Colonic Mucosa	Colon
26	chr17:60129400-60136200	Weak transcription	NHEK	skin
27	chr17:60129400-60136800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr17:60129600-60139000	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr17:60129800-60139000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr17:60129800-60139000	Weak transcription	Fetal Kidney	kidney
31	chr17:60130000-60135400	Weak transcription	HMEC	breast
32	chr17:60130000-60136800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr17:60130000-60139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr17:60130200-60136200	Weak transcription	Fetal Lung	lung
35	chr17:60130200-60136600	Weak transcription	Brain Germinal Matrix	brain
36	chr17:60130400-60136800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:60130600-60136600	Weak transcription	Primary hematopoietic stem cells	blood
38	chr17:60130600-60139200	Weak transcription	HUVEC	blood vessel
39	chr17:60131200-60138000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr17:60131400-60136000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr17:60132000-60135400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
42	chr17:60132200-60137000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr17:60132400-60138800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr17:60132800-60135400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:60132800-60136200	Strong transcription	GM12878-XiMat	blood
46	chr17:60133000-60136800	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr17:60133000-60137000	Strong transcription	Primary B cells from cord blood	blood
48	chr17:60133200-60136600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr17:60133200-60136800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr17:60133200-60136800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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