Variant report

Variant	rs17443885
Chromosome Location	chr1:67404500-67404501
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:67404451..67406130-chr1:67406945..67409077,2	MCF-7	breast:
2	chr1:67404063..67406127-chr1:67410459..67413110,2	K562	blood:
3	chr1:67394807..67399809-chr1:67404053..67407983,7	MCF-7	breast:
4	chr1:67395077..67397526-chr1:67403899..67406073,2	MCF-7	breast:
5	chr1:67404224..67406343-chr1:67407940..67409910,2	K562	blood:
6	chr1:67402975..67406629-chr1:67416021..67418318,3	K562	blood:

Variant related genes	Relation type
ENSG00000198160	Chromatin interaction

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

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

rs_ID	r²[population]
rs2985828	1.00[AFR][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	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv871720	chr1:67357596-67435161	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67396600-67416600	Weak transcription	Spleen	Spleen
2	chr1:67396800-67411200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr1:67396800-67414400	Weak transcription	Lung	lung
4	chr1:67396800-67429800	Weak transcription	Pancreas	Pancrea
5	chr1:67396800-67458200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:67396800-67459000	Weak transcription	Esophagus	oesophagus
7	chr1:67397000-67408000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:67397000-67409200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:67397600-67411000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:67397600-67411200	Weak transcription	Placenta	Placenta
11	chr1:67397600-67411200	Weak transcription	Fetal Stomach	stomach
12	chr1:67397600-67413000	Weak transcription	Fetal Brain Female	brain
13	chr1:67397600-67413000	Weak transcription	Fetal Kidney	kidney
14	chr1:67397600-67416600	Weak transcription	Right Ventricle	heart
15	chr1:67397600-67424400	Weak transcription	Colonic Mucosa	Colon
16	chr1:67397600-67457600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr1:67397800-67412400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:67397800-67412400	Weak transcription	Brain Germinal Matrix	brain
19	chr1:67398400-67412200	Weak transcription	Fetal Brain Male	brain
20	chr1:67398400-67414000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr1:67398600-67406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:67398600-67411000	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr1:67399000-67416400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:67399200-67406400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:67399600-67407400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:67399800-67409200	Weak transcription	Fetal Heart	heart
27	chr1:67399800-67411200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr1:67400000-67405200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:67400000-67408000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr1:67400000-67411200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:67400200-67406200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:67400200-67410200	Weak transcription	HSMMtube	muscle
33	chr1:67400400-67404800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:67400400-67406400	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:67400400-67409800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr1:67400400-67410600	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:67400400-67413200	Weak transcription	Brain Substantia Nigra	brain
38	chr1:67400400-67413200	Weak transcription	Fetal Lung	lung
39	chr1:67400600-67405600	Weak transcription	Fetal Thymus	thymus
40	chr1:67400600-67406200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:67400600-67406400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:67400600-67406600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr1:67400600-67407200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr1:67400600-67409200	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:67400600-67409200	Weak transcription	Fetal Muscle Leg	muscle
46	chr1:67400600-67409400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr1:67400600-67466600	Weak transcription	Aorta	Aorta
48	chr1:67400800-67405600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr1:67400800-67405800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr1:67400800-67406200	Weak transcription	Rectal Mucosa Donor 29	rectum

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