Variant report

Variant	rs17074630
Chromosome Location	chr3:42649038-42649039
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:42538804..42541639-chr3:42648578..42650101,2	MCF-7	breast:
2	chr3:42647403..42649069-chr3:42694170..42697122,2	K562	blood:
3	chr3:42632973..42636724-chr3:42645956..42649361,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000114853	Chromatin interaction
ENSG00000230084	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17074830	1.00[AMR][1000 genomes]
rs17074832	1.00[AMR][1000 genomes]
rs6796525	1.00[AMR][1000 genomes]
rs6796930	1.00[AMR][1000 genomes]
rs72867312	1.00[AMR][1000 genomes]
rs72867329	1.00[AMR][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	nsv1002944	chr3:42559762-42728909	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv876730	chr3:42643935-42667936	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42643000-42650000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr3:42643000-42650000	Weak transcription	Esophagus	oesophagus
3	chr3:42643200-42649600	Weak transcription	Lung	lung
4	chr3:42643200-42672800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr3:42643600-42675000	Weak transcription	Aorta	Aorta
6	chr3:42643800-42671200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr3:42644000-42649800	Weak transcription	Right Atrium	heart
8	chr3:42644000-42660000	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:42644000-42671000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:42644000-42671200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr3:42644000-42671400	Weak transcription	HSMMtube	muscle
12	chr3:42644000-42672000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:42644200-42649800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:42644200-42649800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:42644200-42655200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr3:42644200-42663200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:42644200-42672400	Weak transcription	Fetal Kidney	kidney
18	chr3:42644400-42653600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:42644800-42649600	Weak transcription	Left Ventricle	heart
20	chr3:42644800-42649600	Weak transcription	Ovary	ovary
21	chr3:42644800-42649800	Weak transcription	Small Intestine	intestine
22	chr3:42644800-42650200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:42644800-42660000	Weak transcription	Colonic Mucosa	Colon
24	chr3:42644800-42660200	Weak transcription	NH-A	brain
25	chr3:42645000-42649400	Strong transcription	Primary B cells from cord blood	blood
26	chr3:42645200-42652200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr3:42645200-42660200	Weak transcription	HMEC	breast
28	chr3:42645600-42649400	Weak transcription	Fetal Stomach	stomach
29	chr3:42645600-42650400	Strong transcription	Fetal Thymus	thymus
30	chr3:42645600-42653400	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr3:42645800-42649800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr3:42646000-42672000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr3:42646200-42649400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr3:42646200-42651800	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:42646200-42654000	Genic enhancers	Primary T helper cells PMA-I stimulated	--
36	chr3:42646400-42650000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:42646600-42649200	Weak transcription	Fetal Intestine Small	intestine
38	chr3:42646600-42649600	Weak transcription	Pancreas	Pancrea
39	chr3:42646800-42649600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr3:42646800-42650000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:42647000-42671400	Weak transcription	NHEK	skin
42	chr3:42647200-42649400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr3:42647200-42649800	Weak transcription	Colon Smooth Muscle	Colon
44	chr3:42647200-42650600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr3:42647200-42668600	Weak transcription	Brain Germinal Matrix	brain
46	chr3:42647200-42688200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr3:42647400-42649600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:42647400-42651600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:42647400-42654600	Weak transcription	Right Ventricle	heart
50	chr3:42647400-42672000	Weak transcription	NHLF	lung

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